Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Identifieur interne : 000765 ( Main/Exploration ); précédent : 000764; suivant : 000766Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Auteurs : Karen L. Oliver [Australie] ; Silvana Franceschetti [Italie] ; Carol J. Milligan [Australie] ; Mikko Muona [Finlande] ; Simone A. Mandelstam [Australie] ; Laura Canafoglia [Italie] ; Anna M. Boguszewska-Chachulska [Pologne] ; Amos D. Korczyn [Israël] ; Francesca Bisulli [Italie] ; Carlo Di Bonaventura [Italie] ; Francesca Ragona [Italie] ; Roberto Michelucci [Italie] ; Bruria Ben-Zeev [Israël] ; Rachel Straussberg [Israël] ; Ferruccio Panzica [Italie] ; João Massano [Portugal] ; Daniel Friedman [États-Unis] ; Arielle Crespel [France] ; Bernt A. Engelsen [Norvège] ; Frederick Andermann [Canada] ; Eva Andermann [Canada] ; Krystyna Spodar [Pologne] ; Anetta Lasek-Bal [Pologne] ; Patrizia Riguzzi [Italie] ; Elena Pasini [Italie] ; Paolo Tinuper [Italie] ; Laura Licchetta [Italie] ; Elena Gardella [Danemark] ; Matthias Lindenau [Allemagne] ; Annette Wulf [Allemagne] ; Rikke S. M Ller [Danemark] ; Felix Benninger [Israël] ; Zaid Afawi [Israël] ; Guido Rubboli [Italie] ; Christopher A. Reid [Australie] ; Snezana Maljevic [Australie] ; Holger Lerche [Allemagne] ; Anna-Elina Lehesjoki [Finlande] ; Steven Petrou [Australie] ; Samuel F. Berkovic [Australie]Source :
- Annals of neurology [ 1531-8249 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Ataxie (), Ataxie (génétique), Ataxie (imagerie diagnostique), Ataxie (physiopathologie), Canaux potassiques Shaw (génétique), Canaux potassiques Shaw (métabolisme), Cellules HEK293, Dysfonctionnement cognitif (étiologie), Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mutation, Mâle, Pedigree, Syndrome, Température élevée, Âge de début, Électroencéphalographie, Épilepsies myocloniques (), Épilepsies myocloniques (génétique), Épilepsies myocloniques (imagerie diagnostique), Épilepsies myocloniques (physiopathologie).
- MESH :
- génétique : Ataxie, Canaux potassiques Shaw, Épilepsies myocloniques.
- imagerie diagnostique : Ataxie, Épilepsies myocloniques.
- métabolisme : Canaux potassiques Shaw.
- physiopathologie : Ataxie, Épilepsies myocloniques.
- étiologie : Dysfonctionnement cognitif.
- Adolescent, Adulte, Adulte d'âge moyen, Ataxie, Cellules HEK293, Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mutation, Mâle, Pedigree, Syndrome, Température élevée, Âge de début, Électroencéphalographie, Épilepsies myocloniques.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Ataxia (complications), Ataxia (diagnostic imaging), Ataxia (genetics), Ataxia (physiopathology), Cognitive Dysfunction (etiology), Electroencephalography, Epilepsies, Myoclonic (complications), Epilepsies, Myoclonic (diagnostic imaging), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Shaw Potassium Channels (genetics), Shaw Potassium Channels (metabolism), Syndrome, Young Adult.
- MESH :
- chemical , genetics : Shaw Potassium Channels.
- complications : Ataxia, Epilepsies, Myoclonic.
- diagnostic imaging : Ataxia, Epilepsies, Myoclonic.
- etiology : Cognitive Dysfunction.
- genetics : Ataxia, Epilepsies, Myoclonic.
- chemical , metabolism : Shaw Potassium Channels.
- physiopathology : Ataxia, Epilepsies, Myoclonic.
- Adolescent, Adult, Age of Onset, Electroencephalography, Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Syndrome, Young Adult.
Abstract
To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.
DOI: 10.1002/ana.24929
PubMed: 28380698
Affiliations:
- Allemagne, Australie, Canada, Danemark, Finlande, France, Israël, Italie, Norvège, Pologne, Portugal, États-Unis
- Bade-Wurtemberg, District de Tübingen, Hambourg, Languedoc-Roussillon, Latium, Lombardie, Occitanie (région administrative), Uusimaa, Victoria (État), État de New York
- Hambourg, Helsinki, Melbourne, Milan, Montpellier, Rome, Tübingen
- Université d'Helsinki, Université de Melbourne
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Le document en format XML
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Oliver</name><affiliation wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</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:affiliation>Department of Neurophysiology, C. 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Mandelstam</name><affiliation wicri:level="1"><nlm:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></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:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. 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Korczyn</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Rome, La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, 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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</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:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</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:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, 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:affiliation>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora</wicri:regionArea><wicri:noRegion>Senhora da Hora</wicri:noRegion></affiliation></author><author><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name><affiliation wicri:level="2"><nlm:affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York</wicri:cityArea></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:affiliation>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy Unit, Gui de Chauliac Hospital, 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="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Medicine, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</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="1"><nlm:affiliation>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><affiliation wicri:level="1"><nlm:affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice</wicri:regionArea><wicri:noRegion>Katowice</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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences 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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></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:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><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="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><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="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:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah</wicri:regionArea><wicri:noRegion>Petah Tikvah</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:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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:affiliation>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, 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="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation wicri:level="1"><nlm:affiliation>Folkhälsan Institute of Genetics, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</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:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></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="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28380698</idno><idno type="pmid">28380698</idno><idno type="doi">10.1002/ana.24929</idno><idno type="wicri:Area/PubMed/Corpus">000C28</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000C28</idno><idno type="wicri:Area/PubMed/Curation">000C25</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000C25</idno><idno type="wicri:Area/PubMed/Checkpoint">000C25</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000C25</idno><idno type="wicri:Area/Ncbi/Merge">004589</idno><idno type="wicri:Area/Ncbi/Curation">004589</idno><idno type="wicri:Area/Ncbi/Checkpoint">004589</idno><idno type="wicri:Area/Main/Merge">000760</idno><idno type="wicri:Area/Main/Curation">000765</idno><idno type="wicri:Area/Main/Exploration">000765</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.</title><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="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</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:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation wicri:level="4"><nlm:affiliation>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</nlm:affiliation><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></author><author><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><affiliation wicri:level="1"><nlm:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></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:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Rome, La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, 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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</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:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</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:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, 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:affiliation>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora</wicri:regionArea><wicri:noRegion>Senhora da Hora</wicri:noRegion></affiliation></author><author><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name><affiliation wicri:level="2"><nlm:affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York</wicri:cityArea></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:affiliation>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy Unit, Gui de Chauliac Hospital, 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="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Medicine, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</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="1"><nlm:affiliation>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><affiliation wicri:level="1"><nlm:affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice</wicri:regionArea><wicri:noRegion>Katowice</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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences 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:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></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:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><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="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><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="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:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah</wicri:regionArea><wicri:noRegion>Petah Tikvah</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:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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:affiliation>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, 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="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation wicri:level="1"><nlm:affiliation>Folkhälsan Institute of Genetics, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</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:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></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="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Ataxia (complications)</term><term>Ataxia (diagnostic imaging)</term><term>Ataxia (genetics)</term><term>Ataxia (physiopathology)</term><term>Cognitive Dysfunction (etiology)</term><term>Electroencephalography</term><term>Epilepsies, Myoclonic (complications)</term><term>Epilepsies, Myoclonic (diagnostic imaging)</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Female</term><term>HEK293 Cells</term><term>Hot Temperature</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Shaw Potassium Channels (genetics)</term><term>Shaw Potassium Channels (metabolism)</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Ataxie ()</term><term>Ataxie (génétique)</term><term>Ataxie (imagerie diagnostique)</term><term>Ataxie (physiopathologie)</term><term>Canaux potassiques Shaw (génétique)</term><term>Canaux potassiques Shaw (métabolisme)</term><term>Cellules HEK293</term><term>Dysfonctionnement cognitif (étiologie)</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term><term>Température élevée</term><term>Âge de début</term><term>Électroencéphalographie</term><term>Épilepsies myocloniques ()</term><term>Épilepsies myocloniques (génétique)</term><term>Épilepsies myocloniques (imagerie diagnostique)</term><term>Épilepsies myocloniques (physiopathologie)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognitive Dysfunction</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Ataxie</term><term>Canaux potassiques Shaw</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Ataxie</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Canaux potassiques Shaw</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Ataxie</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Dysfonctionnement cognitif</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Electroencephalography</term><term>Female</term><term>HEK293 Cells</term><term>Hot Temperature</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Ataxie</term><term>Cellules HEK293</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term><term>Température élevée</term><term>Âge de début</term><term>Électroencéphalographie</term><term>Épilepsies myocloniques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.</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>Israël</li><li>Italie</li><li>Norvège</li><li>Pologne</li><li>Portugal</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Hambourg</li><li>Languedoc-Roussillon</li><li>Latium</li><li>Lombardie</li><li>Occitanie (région administrative)</li><li>Uusimaa</li><li>Victoria (État)</li><li>État de New York</li></region><settlement><li>Hambourg</li><li>Helsinki</li><li>Melbourne</li><li>Milan</li><li>Montpellier</li><li>Rome</li><li>Tübingen</li></settlement><orgName><li>Université d'Helsinki</li><li>Université de Melbourne</li></orgName></list><tree><country name="Australie"><region name="Victoria (État)"><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name></region><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name></country><country name="Italie"><region name="Lombardie"><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name></region><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name></country><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="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name></country><country name="Pologne"><noRegion><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name></noRegion><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name></country><country name="Israël"><noRegion><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name></noRegion><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="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name></country><country name="Portugal"><noRegion><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name></noRegion></country><country name="États-Unis"><region name="État de New York"><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name></region></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name></region></country><country name="Norvège"><noRegion><name sortKey="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name></noRegion><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name></country><country name="Danemark"><noRegion><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name></noRegion><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></country><country name="Allemagne"><region name="Hambourg"><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name></region><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><name sortKey="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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