A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Identifieur interne : 000086 ( France/Analysis ); précédent : 000085; suivant : 000087A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Auteurs : Mikko Muona [Finlande] ; Samuel F. Berkovic [Australie] ; Leanne M. Dibbens [Australie] ; Karen L. Oliver [Australie] ; Snezana Maljevic [Allemagne] ; Marta A. Bayly [Australie] ; Tarja Joensuu [Finlande] ; Laura Canafoglia [Italie] ; Silvana Franceschetti [Italie] ; Roberto Michelucci [Italie] ; Salla Markkinen [Finlande] ; Sarah E. Heron [Australie] ; Michael S. Hildebrand [Australie] ; Eva Andermann [Canada] ; Frederick Andermann [Canada] ; Antonio Gambardella [Italie] ; Paolo Tinuper [Italie] ; Laura Licchetta [Italie] ; Ingrid E. Scheffer [Australie] ; Chiara Criscuolo [Italie] ; Alessandro Filla [Italie] ; Edoardo Ferlazzo [Italie] ; Jamil Ahmad [Pakistan] ; Adeel Ahmad [Pakistan] ; Betul Baykan [Turquie] ; Edith Said [Malte] ; Meral Topcu [Turquie] ; Patrizia Riguzzi [Italie] ; Mary D. King [Irlande (pays)] ; Cigdem Ozkara [Turquie] ; Danielle M. Andrade [Canada] ; Bernt A. Engelsen [Norvège] ; Arielle Crespel [France] ; Matthias Lindenau [Allemagne] ; Ebba Lohmann [Allemagne] ; Veronica Saletti [Italie] ; João Massano [Portugal] ; Michael Privitera [États-Unis] ; Alberto J. Espay [États-Unis] ; Birgit Kauffmann [Allemagne] ; Michael Duchowny [États-Unis] ; Rikke S. M Ller [Danemark] ; Rachel Straussberg [Israël] ; Zaid Afawi [Israël] ; Bruria Ben-Zeev [Israël] ; Kaitlin E. Samocha [États-Unis] ; Mark J. Daly [États-Unis] ; Steven Petrou [Australie] ; Holger Lerche [Allemagne] ; Aarno Palotie [Finlande, États-Unis, Royaume-Uni] ; Anna-Elina Lehesjoki [Finlande]Source :
- Nature genetics [ 1061-4036 ] ; 2014.
English descriptors
- KwdEn :
- Amino Acid Sequence, Amino Acid Substitution, Animals, Base Sequence, Carrier Proteins (genetics), Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Proteins (genetics), Humans, Male, Molecular Sequence Data, Mutation, Missense, Myoclonic Epilepsies, Progressive (genetics), Pedigree, Point Mutation, Prion Proteins, Prions (genetics), Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channels (genetics), Shaw Potassium Channels (physiology), Species Specificity.
- MESH :
- chemical , genetics : Carrier Proteins, Heat-Shock Proteins, Prions, Shaw Potassium Channels.
- genetics : Myoclonic Epilepsies, Progressive.
- chemical , physiology : Shaw Potassium Channels.
- Amino Acid Sequence, Amino Acid Substitution, Animals, Base Sequence, Conserved Sequence, Exome, Female, Genes, Dominant, Humans, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Point Mutation, Prion Proteins, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Species Specificity.
Abstract
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures, and ataxia. We exome-sequenced 84 unrelated PME patients of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent
Url:
DOI: 10.1038/ng.3144
PubMed: 25401298
PubMed Central: 4281260
Affiliations:
- Allemagne, Australie, Canada, Danemark, Finlande, France, Irlande (pays), Israël, Italie, Malte, Norvège, Pakistan, Portugal, Royaume-Uni, Turquie, États-Unis
- Bade-Wurtemberg, Brême (Land), District de Tübingen, Floride, Hambourg, Languedoc-Roussillon, Lombardie, Occitanie (région administrative), Ohio, Ontario, Québec, Uusimaa
- Brême, Hambourg, Helsinki, Milan, Montpellier, Montréal, Toronto, Tübingen
- Université McGill, Université d'Helsinki, Université de Toronto
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PMC:4281260Le document en format XML
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Berkovic</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Dibbens, Leanne M" sort="Dibbens, Leanne M" uniqKey="Dibbens L" first="Leanne M" last="Dibbens">Leanne M. Dibbens</name><affiliation wicri:level="1"><nlm:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation wicri:level="3"><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Bayly, Marta A" sort="Bayly, Marta A" uniqKey="Bayly M" first="Marta A" last="Bayly">Marta A. Bayly</name><affiliation wicri:level="1"><nlm:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Heron, Sarah E" sort="Heron, Sarah E" uniqKey="Heron S" first="Sarah E" last="Heron">Sarah E. Heron</name><affiliation wicri:level="1"><nlm:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Hildebrand, Michael S" sort="Hildebrand, Michael S" uniqKey="Hildebrand M" first="Michael S" last="Hildebrand">Michael S. Hildebrand</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation wicri:level="4"><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation wicri:level="4"><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation wicri:level="1"><nlm:aff id="A11">Institute of Neurology, University Magna Graecia, Catanzaro, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name><affiliation wicri:level="1"><nlm:aff id="A16">Magna Graecia University, Catanzaro, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Magna Graecia University, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria</wicri:regionArea><wicri:noRegion>Reggio Calabria</wicri:noRegion></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan</nlm:aff><country xml:lang="fr">Pakistan</country><wicri:regionArea>Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta</wicri:regionArea><wicri:noRegion>Quetta</wicri:noRegion></affiliation></author><author><name sortKey="Ahmad, Adeel" sort="Ahmad, Adeel" uniqKey="Ahmad A" first="Adeel" last="Ahmad">Adeel Ahmad</name><affiliation wicri:level="1"><nlm:aff id="A19">Department of Medicine, Mayo Hospital, Lahore, Pakistan</nlm:aff><country xml:lang="fr">Pakistan</country><wicri:regionArea>Department of Medicine, Mayo Hospital, Lahore</wicri:regionArea><wicri:noRegion>Lahore</wicri:noRegion></affiliation></author><author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A21">Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Epilepsy Center (EPIMER), Istanbul University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Said, Edith" sort="Said, Edith" uniqKey="Said E" first="Edith" last="Said">Edith Said</name><affiliation wicri:level="1"><nlm:aff id="A22">Department of Anatomy & Cell Biology, University of Malta, Msida, Malta</nlm:aff><country xml:lang="fr">Malte</country><wicri:regionArea>Department of Anatomy & Cell Biology, University of Malta, Msida</wicri:regionArea><wicri:noRegion>Msida</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A23">Section of Medical Genetics, Mater dei Hospital, Msida, Malta</nlm:aff><country xml:lang="fr">Malte</country><wicri:regionArea>Section of Medical Genetics, Mater dei Hospital, Msida</wicri:regionArea><wicri:noRegion>Msida</wicri:noRegion></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topcu">Meral Topcu</name><affiliation wicri:level="1"><nlm:aff id="A24">Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Neurology, Temple Street Children’s University Hospital, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Neurology, Temple Street Children’s University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A26">Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Ozkara, Cigdem" sort="Ozkara, Cigdem" uniqKey="Ozkara C" first="Cigdem" last="Ozkara">Cigdem Ozkara</name><affiliation wicri:level="1"><nlm:aff id="A27">Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M" last="Andrade">Danielle M. Andrade</name><affiliation wicri:level="4"><nlm:aff id="A28">Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Clinical Medicine, University of Bergen, Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Medicine, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A30">Department of Neurology, Haukeland University Hospital, Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, Haukeland University Hospital, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation wicri:level="3"><nlm:aff id="A31">Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation wicri:level="3"><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation wicri:level="3"><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A34">DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>DZNE, German Center for Neurodegenerative Diseases, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Saletti, Veronica" sort="Saletti, Veronica" uniqKey="Saletti V" first="Veronica" last="Saletti">Veronica Saletti</name><affiliation wicri:level="3"><nlm:aff id="A35">Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation wicri:level="1"><nlm:aff id="A36">Department of Neurology, Centro Hospitalar São João, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Centro Hospitalar São João, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A37">Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Privitera, Michael" sort="Privitera, Michael" uniqKey="Privitera M" first="Michael" last="Privitera">Michael Privitera</name><affiliation wicri:level="2"><nlm:aff id="A38">Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J" last="Espay">Alberto J. Espay</name><affiliation wicri:level="2"><nlm:aff id="A39">Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Kauffmann, Birgit" sort="Kauffmann, Birgit" uniqKey="Kauffmann B" first="Birgit" last="Kauffmann">Birgit Kauffmann</name><affiliation wicri:level="3"><nlm:aff id="A40">Klinikum Links der Weser, Bremen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinikum Links der Weser, Bremen</wicri:regionArea><placeName><region type="land" nuts="3">Brême (Land)</region><settlement type="city">Brême</settlement></placeName></affiliation></author><author><name sortKey="Duchowny, Michael" sort="Duchowny, Michael" uniqKey="Duchowny M" first="Michael" last="Duchowny">Michael Duchowny</name><affiliation wicri:level="2"><nlm:aff id="A41">Brain Institute, Miami Children’s Hospital, Miami, Florida, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Brain Institute, Miami Children’s Hospital, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A42">Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation wicri:level="1"><nlm:aff id="A43">Danish Epilepsy Centre, Dianalund, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Centre, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A44">Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Institute of Regional Health Services Research, University of Southern Denmark, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation wicri:level="1"><nlm:aff id="A45">Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah</wicri:regionArea><wicri:noRegion>Petah Tiqvah</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv</wicri:regionArea><wicri:noRegion>Ramat Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation wicri:level="1"><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv</wicri:regionArea><wicri:noRegion>Ramat Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A47">Zlotowski Center for Neuroscience, Ben-Gurion University, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Zlotowski Center for Neuroscience, Ben-Gurion University</wicri:regionArea><wicri:noRegion>Ben-Gurion University</wicri:noRegion></affiliation></author><author><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><affiliation wicri:level="1"><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv</wicri:regionArea><wicri:noRegion>Ramat Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A48">Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan</wicri:regionArea><wicri:noRegion>Ramat-Gan</wicri:noRegion></affiliation></author><author><name sortKey="Samocha, Kaitlin E" sort="Samocha, Kaitlin E" uniqKey="Samocha K" first="Kaitlin E" last="Samocha">Kaitlin E. Samocha</name><affiliation wicri:level="1"><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A52">Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J" last="Daly">Mark J. Daly</name><affiliation wicri:level="1"><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation wicri:level="1"><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A53">The Centre for Neural Engineering, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Centre for Neural Engineering, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation wicri:level="3"><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name><affiliation wicri:level="4"><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A54">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton</wicri:regionArea><wicri:noRegion>Hinxton</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A55">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A56">Department of Neurology, Massachusetts General Hospital, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25401298</idno><idno type="pmc">4281260</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281260</idno><idno type="RBID">PMC:4281260</idno><idno type="doi">10.1038/ng.3144</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000868</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000868</idno><idno type="wicri:Area/Pmc/Curation">000868</idno><idno type="wicri:explorRef" 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type="wicri:Area/France/Extraction">000086</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A recurrent <italic>de novo</italic> mutation in <italic>KCNC1</italic> causes progressive myoclonus epilepsy</title><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation wicri:level="4"><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Dibbens, Leanne M" sort="Dibbens, Leanne M" uniqKey="Dibbens L" first="Leanne M" last="Dibbens">Leanne M. Dibbens</name><affiliation wicri:level="1"><nlm:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation wicri:level="3"><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Bayly, Marta A" sort="Bayly, Marta A" uniqKey="Bayly M" first="Marta A" last="Bayly">Marta A. Bayly</name><affiliation wicri:level="1"><nlm:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Heron, Sarah E" sort="Heron, Sarah E" uniqKey="Heron S" first="Sarah E" last="Heron">Sarah E. Heron</name><affiliation wicri:level="1"><nlm:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Hildebrand, Michael S" sort="Hildebrand, Michael S" uniqKey="Hildebrand M" first="Michael S" last="Hildebrand">Michael S. Hildebrand</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation wicri:level="4"><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation wicri:level="4"><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation wicri:level="1"><nlm:aff id="A11">Institute of Neurology, University Magna Graecia, Catanzaro, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="1"><nlm:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name><affiliation wicri:level="1"><nlm:aff id="A16">Magna Graecia University, Catanzaro, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Magna Graecia University, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria</wicri:regionArea><wicri:noRegion>Reggio Calabria</wicri:noRegion></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan</nlm:aff><country xml:lang="fr">Pakistan</country><wicri:regionArea>Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta</wicri:regionArea><wicri:noRegion>Quetta</wicri:noRegion></affiliation></author><author><name sortKey="Ahmad, Adeel" sort="Ahmad, Adeel" uniqKey="Ahmad A" first="Adeel" last="Ahmad">Adeel Ahmad</name><affiliation wicri:level="1"><nlm:aff id="A19">Department of Medicine, Mayo Hospital, Lahore, Pakistan</nlm:aff><country xml:lang="fr">Pakistan</country><wicri:regionArea>Department of Medicine, Mayo Hospital, Lahore</wicri:regionArea><wicri:noRegion>Lahore</wicri:noRegion></affiliation></author><author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A21">Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Epilepsy Center (EPIMER), Istanbul University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Said, Edith" sort="Said, Edith" uniqKey="Said E" first="Edith" last="Said">Edith Said</name><affiliation wicri:level="1"><nlm:aff id="A22">Department of Anatomy & Cell Biology, University of Malta, Msida, Malta</nlm:aff><country xml:lang="fr">Malte</country><wicri:regionArea>Department of Anatomy & Cell Biology, University of Malta, Msida</wicri:regionArea><wicri:noRegion>Msida</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A23">Section of Medical Genetics, Mater dei Hospital, Msida, Malta</nlm:aff><country xml:lang="fr">Malte</country><wicri:regionArea>Section of Medical Genetics, Mater dei Hospital, Msida</wicri:regionArea><wicri:noRegion>Msida</wicri:noRegion></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topcu">Meral Topcu</name><affiliation wicri:level="1"><nlm:aff id="A24">Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation wicri:level="1"><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="King, Mary D" sort="King, Mary D" uniqKey="King M" first="Mary D" last="King">Mary D. King</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Neurology, Temple Street Children’s University Hospital, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Neurology, Temple Street Children’s University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A26">Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Ozkara, Cigdem" sort="Ozkara, Cigdem" uniqKey="Ozkara C" first="Cigdem" last="Ozkara">Cigdem Ozkara</name><affiliation wicri:level="1"><nlm:aff id="A27">Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul</wicri:regionArea><wicri:noRegion>Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M" last="Andrade">Danielle M. Andrade</name><affiliation wicri:level="4"><nlm:aff id="A28">Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name><affiliation wicri:level="1"><nlm:aff id="A29">Department of Clinical Medicine, University of Bergen, Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Medicine, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A30">Department of Neurology, Haukeland University Hospital, Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, Haukeland University Hospital, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation wicri:level="3"><nlm:aff id="A31">Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation wicri:level="3"><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation wicri:level="3"><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A34">DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>DZNE, German Center for Neurodegenerative Diseases, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Saletti, Veronica" sort="Saletti, Veronica" uniqKey="Saletti V" first="Veronica" last="Saletti">Veronica Saletti</name><affiliation wicri:level="3"><nlm:aff id="A35">Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation wicri:level="1"><nlm:aff id="A36">Department of Neurology, Centro Hospitalar São João, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Centro Hospitalar São João, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A37">Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Privitera, Michael" sort="Privitera, Michael" uniqKey="Privitera M" first="Michael" last="Privitera">Michael Privitera</name><affiliation wicri:level="2"><nlm:aff id="A38">Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J" last="Espay">Alberto J. Espay</name><affiliation wicri:level="2"><nlm:aff id="A39">Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Kauffmann, Birgit" sort="Kauffmann, Birgit" uniqKey="Kauffmann B" first="Birgit" last="Kauffmann">Birgit Kauffmann</name><affiliation wicri:level="3"><nlm:aff id="A40">Klinikum Links der Weser, Bremen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinikum Links der Weser, Bremen</wicri:regionArea><placeName><region type="land" nuts="3">Brême (Land)</region><settlement type="city">Brême</settlement></placeName></affiliation></author><author><name sortKey="Duchowny, Michael" sort="Duchowny, Michael" uniqKey="Duchowny M" first="Michael" last="Duchowny">Michael Duchowny</name><affiliation wicri:level="2"><nlm:aff id="A41">Brain Institute, Miami Children’s Hospital, Miami, Florida, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Brain Institute, Miami Children’s Hospital, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A42">Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation wicri:level="1"><nlm:aff id="A43">Danish Epilepsy Centre, Dianalund, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Centre, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A44">Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark</nlm:aff><country xml:lang="fr">Danemark</country><wicri:regionArea>Institute of Regional Health Services Research, University of Southern Denmark, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation wicri:level="1"><nlm:aff id="A45">Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah</wicri:regionArea><wicri:noRegion>Petah Tiqvah</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv</wicri:regionArea><wicri:noRegion>Ramat Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation wicri:level="1"><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv</wicri:regionArea><wicri:noRegion>Ramat Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A47">Zlotowski Center for Neuroscience, Ben-Gurion University, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Zlotowski Center for Neuroscience, Ben-Gurion University</wicri:regionArea><wicri:noRegion>Ben-Gurion University</wicri:noRegion></affiliation></author><author><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><affiliation wicri:level="1"><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv</wicri:regionArea><wicri:noRegion>Ramat Aviv</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A48">Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan, Israel</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan</wicri:regionArea><wicri:noRegion>Ramat-Gan</wicri:noRegion></affiliation></author><author><name sortKey="Samocha, Kaitlin E" sort="Samocha, Kaitlin E" uniqKey="Samocha K" first="Kaitlin E" last="Samocha">Kaitlin E. Samocha</name><affiliation wicri:level="1"><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A52">Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J" last="Daly">Mark J. Daly</name><affiliation wicri:level="1"><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation wicri:level="1"><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A53">The Centre for Neural Engineering, University of Melbourne, Victoria, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Centre for Neural Engineering, University of Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation wicri:level="3"><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name><affiliation wicri:level="4"><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A54">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton</wicri:regionArea><wicri:noRegion>Hinxton</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A55">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A56">Department of Neurology, Massachusetts General Hospital, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, MA</wicri:regionArea><wicri:noRegion>MA</wicri:noRegion></affiliation></author><author><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation wicri:level="1"><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Neuroscience Center, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff><country xml:lang="fr">Finlande</country><wicri:regionArea>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term><term>Amino Acid Substitution</term><term>Animals</term><term>Base Sequence</term><term>Carrier Proteins (genetics)</term><term>Conserved Sequence</term><term>Exome</term><term>Female</term><term>Genes, Dominant</term><term>Heat-Shock Proteins (genetics)</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Myoclonic Epilepsies, Progressive (genetics)</term><term>Pedigree</term><term>Point Mutation</term><term>Prion Proteins</term><term>Prions (genetics)</term><term>Protein Conformation</term><term>Sequence Alignment</term><term>Sequence Homology, Amino Acid</term><term>Shaw Potassium Channels (genetics)</term><term>Shaw Potassium Channels (physiology)</term><term>Species Specificity</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term><term>Heat-Shock Proteins</term><term>Prions</term><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Amino Acid Substitution</term><term>Animals</term><term>Base Sequence</term><term>Conserved Sequence</term><term>Exome</term><term>Female</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Pedigree</term><term>Point Mutation</term><term>Prion Proteins</term><term>Protein Conformation</term><term>Sequence Alignment</term><term>Sequence Homology, Amino Acid</term><term>Species Specificity</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P3">Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures, and ataxia. We exome-sequenced 84 unrelated PME patients of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent <italic>de novo</italic> mutation c.959G>A (p.Arg320His) in <italic>KCNC1</italic> was identified as a novel major cause for PME. Eleven unrelated exome-sequenced (13%) and two patients in a secondary cohort (7%) had this mutation. <italic>KCNC1</italic> encodes K<sub>V</sub>3.1, a subunit of the K<sub>V</sub>3 voltage-gated K<sup>+</sup> channels, major determinants of high-frequency neuronal firing. Functional analysis of the p.Arg320His mutant channel revealed a dominant-negative loss-of-function effect. Ten patients had pathogenic mutations in known PME-associated genes (<italic>NEU1, NHLRC1, AFG3L2, EPM2A, CLN6, SERPINI1</italic>). Identification of mutations in <italic>PRNP, SACS</italic>, and <italic>TBC1D24</italic> expand their phenotypic spectrum to PME. These findings provide important insights into the molecular genetic basis of PME and reveal the role of <italic>de novo</italic> mutations in this disease entity.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>Danemark</li><li>Finlande</li><li>France</li><li>Irlande (pays)</li><li>Israël</li><li>Italie</li><li>Malte</li><li>Norvège</li><li>Pakistan</li><li>Portugal</li><li>Royaume-Uni</li><li>Turquie</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Brême (Land)</li><li>District de Tübingen</li><li>Floride</li><li>Hambourg</li><li>Languedoc-Roussillon</li><li>Lombardie</li><li>Occitanie (région administrative)</li><li>Ohio</li><li>Ontario</li><li>Québec</li><li>Uusimaa</li></region><settlement><li>Brême</li><li>Hambourg</li><li>Helsinki</li><li>Milan</li><li>Montpellier</li><li>Montréal</li><li>Toronto</li><li>Tübingen</li></settlement><orgName><li>Université McGill</li><li>Université d'Helsinki</li><li>Université de Toronto</li></orgName></list><tree><country name="Finlande"><region name="Uusimaa"><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name></region><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name></country><country name="Australie"><noRegion><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name></noRegion><name sortKey="Bayly, Marta A" sort="Bayly, Marta A" uniqKey="Bayly M" first="Marta A" last="Bayly">Marta A. Bayly</name><name sortKey="Dibbens, Leanne M" sort="Dibbens, Leanne M" uniqKey="Dibbens L" first="Leanne M" last="Dibbens">Leanne M. Dibbens</name><name sortKey="Heron, Sarah E" sort="Heron, Sarah E" uniqKey="Heron S" first="Sarah E" last="Heron">Sarah E. Heron</name><name sortKey="Hildebrand, Michael S" sort="Hildebrand, Michael S" uniqKey="Hildebrand M" first="Michael S" last="Hildebrand">Michael S. Hildebrand</name><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. 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M Ller</name></country><country name="Israël"><noRegion><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name></noRegion><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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