A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Identifieur interne : 003129 ( PubMed/Corpus ); précédent : 003128; suivant : 003130A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Auteurs : Mikko Muona ; Samuel F. Berkovic ; Leanne M. Dibbens ; Karen L. Oliver ; Snezana Maljevic ; Marta A. Bayly ; Tarja Joensuu ; Laura Canafoglia ; Silvana Franceschetti ; Roberto Michelucci ; Salla Markkinen ; Sarah E. Heron ; Michael S. Hildebrand ; Eva Andermann ; Frederick Andermann ; Antonio Gambardella ; Paolo Tinuper ; Laura Licchetta ; Ingrid E. Scheffer ; Chiara Criscuolo ; Alessandro Filla ; Edoardo Ferlazzo ; Jamil Ahmad ; Adeel Ahmad ; Betul Baykan ; Edith Said ; Meral Topcu ; Patrizia Riguzzi ; Mary D. King ; Cigdem Ozkara ; Danielle M. Andrade ; Bernt A. Engelsen ; Arielle Crespel ; Matthias Lindenau ; Ebba Lohmann ; Veronica Saletti ; João Massano ; Michael Privitera ; Alberto J. Espay ; Birgit Kauffmann ; Michael Duchowny ; Rikke S. M Ller ; Rachel Straussberg ; Zaid Afawi ; Bruria Ben-Zeev ; Kaitlin E. Samocha ; Mark J. Daly ; Steven Petrou ; Holger Lerche ; Aarno Palotie ; Anna-Elina LehesjokiSource :
- Nature genetics [ 1546-1718 ] ; 2015.
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 sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this mutation. KCNC1 encodes KV3.1, a subunit of the KV3 voltage-gated potassium ion channels, which are major determinants of high-frequency neuronal firing. Functional analysis of the Arg320His mutant channel showed a dominant-negative loss-of-function effect. Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1). Identification of mutations in PRNP, SACS and TBC1D24 expand their phenotypic spectra to PME. These findings provide insights into the molecular genetic basis of PME and show the role of de novo mutations in this disease entity.
DOI: 10.1038/ng.3144
PubMed: 25401298
Links to Exploration step
pubmed:25401298Le document en format XML
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Berkovic</name><affiliation><nlm:affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></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><nlm:affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation></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><nlm:affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></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><nlm:affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><affiliation><nlm:affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation><nlm:affiliation>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation><nlm:affiliation>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation><nlm:affiliation>Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><affiliation><nlm:affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></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><nlm:affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation></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><nlm:affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation><nlm:affiliation>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation><nlm:affiliation>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation><nlm:affiliation>Institute of Neurology, University Magna Graecia, Catanzaro, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation><nlm:affiliation>1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation><nlm:affiliation>1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation></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><nlm:affiliation>1] Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. [2] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [3] Department of Pediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation><nlm:affiliation>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation><nlm:affiliation>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name><affiliation><nlm:affiliation>1] Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. [2] Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation><nlm:affiliation>Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan.</nlm:affiliation></affiliation></author><author><name sortKey="Ahmad, Adeel" sort="Ahmad, Adeel" uniqKey="Ahmad A" first="Adeel" last="Ahmad">Adeel Ahmad</name><affiliation><nlm:affiliation>Department of Medicine, Mayo Hospital, Lahore, Pakistan.</nlm:affiliation></affiliation></author><author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name><affiliation><nlm:affiliation>1] Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. [2] Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Said, Edith" sort="Said, Edith" uniqKey="Said E" first="Edith" last="Said">Edith Said</name><affiliation><nlm:affiliation>1] Department of Anatomy and Cell Biology, University of Malta, Msida, Malta. [2] Section of Medical Genetics, Mater dei Hospital, Msida, Malta.</nlm:affiliation></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topcu">Meral Topcu</name><affiliation><nlm:affiliation>Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation><nlm:affiliation>Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.</nlm:affiliation></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><nlm:affiliation>1] Department of Neurology, Temple Street Children's University Hospital, Dublin, Ireland. [2] Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Ozkara, Cigdem" sort="Ozkara, Cigdem" uniqKey="Ozkara C" first="Cigdem" last="Ozkara">Cigdem Ozkara</name><affiliation><nlm:affiliation>Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.</nlm:affiliation></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><nlm:affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canada.</nlm:affiliation></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><nlm:affiliation>1] Department of Clinical Medicine, University of Bergen, Bergen, Norway. [2] Department of Neurology, Haukeland University Hospital, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation><nlm:affiliation>Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><nlm:affiliation>1] Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany. [2] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [3] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Saletti, Veronica" sort="Saletti, Veronica" uniqKey="Saletti V" first="Veronica" last="Saletti">Veronica Saletti</name><affiliation><nlm:affiliation>Developmental Neurology Unit, C. Besta Foundation Neurological Institute, IRCCS, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation><nlm:affiliation>1] Department of Neurology, Centro Hospitalar São João, Porto, Portugal. [2] Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Privitera, Michael" sort="Privitera, Michael" uniqKey="Privitera M" first="Michael" last="Privitera">Michael Privitera</name><affiliation><nlm:affiliation>Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA.</nlm:affiliation></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><nlm:affiliation>Gardner Center for Parkinson Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Kauffmann, Birgit" sort="Kauffmann, Birgit" uniqKey="Kauffmann B" first="Birgit" last="Kauffmann">Birgit Kauffmann</name><affiliation><nlm:affiliation>Klinikum Links der Weser, Bremen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Duchowny, Michael" sort="Duchowny, Michael" uniqKey="Duchowny M" first="Michael" last="Duchowny">Michael Duchowny</name><affiliation><nlm:affiliation>1] Brain Institute, Miami Children's Hospital, Miami, Florida, USA. [2] Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.</nlm:affiliation></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><nlm:affiliation>1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation><nlm:affiliation>1] Neurogenetic Clinic, Child Neurology Institute, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel. [2] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation><nlm:affiliation>1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel.</nlm:affiliation></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><nlm:affiliation>1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.</nlm:affiliation></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><nlm:affiliation>1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation></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><nlm:affiliation>1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation><nlm:affiliation>1] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name><affiliation><nlm:affiliation>1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [3] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [5] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. [6] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA. [7] Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:affiliation></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><nlm:affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25401298</idno><idno type="pmid">25401298</idno><idno type="doi">10.1038/ng.3144</idno><idno type="wicri:Area/PubMed/Corpus">003129</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003129</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.</title><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation><nlm:affiliation>1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Folkhälsan Institute of Genetics, Helsinki, Finland. [3] Neuroscience Center, University of Helsinki, Helsinki, Finland. [4] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></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><nlm:affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></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><nlm:affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation></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><nlm:affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></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><nlm:affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><affiliation><nlm:affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation><nlm:affiliation>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation><nlm:affiliation>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation><nlm:affiliation>Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><affiliation><nlm:affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></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><nlm:affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</nlm:affiliation></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><nlm:affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation><nlm:affiliation>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation><nlm:affiliation>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation><nlm:affiliation>Institute of Neurology, University Magna Graecia, Catanzaro, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation><nlm:affiliation>1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation><nlm:affiliation>1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation></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><nlm:affiliation>1] Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. [2] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [3] Department of Pediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation><nlm:affiliation>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation><nlm:affiliation>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name><affiliation><nlm:affiliation>1] Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. [2] Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation><nlm:affiliation>Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan.</nlm:affiliation></affiliation></author><author><name sortKey="Ahmad, Adeel" sort="Ahmad, Adeel" uniqKey="Ahmad A" first="Adeel" last="Ahmad">Adeel Ahmad</name><affiliation><nlm:affiliation>Department of Medicine, Mayo Hospital, Lahore, Pakistan.</nlm:affiliation></affiliation></author><author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name><affiliation><nlm:affiliation>1] Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. [2] Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Said, Edith" sort="Said, Edith" uniqKey="Said E" first="Edith" last="Said">Edith Said</name><affiliation><nlm:affiliation>1] Department of Anatomy and Cell Biology, University of Malta, Msida, Malta. [2] Section of Medical Genetics, Mater dei Hospital, Msida, Malta.</nlm:affiliation></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topcu">Meral Topcu</name><affiliation><nlm:affiliation>Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation><nlm:affiliation>Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.</nlm:affiliation></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><nlm:affiliation>1] Department of Neurology, Temple Street Children's University Hospital, Dublin, Ireland. [2] Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Ozkara, Cigdem" sort="Ozkara, Cigdem" uniqKey="Ozkara C" first="Cigdem" last="Ozkara">Cigdem Ozkara</name><affiliation><nlm:affiliation>Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.</nlm:affiliation></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><nlm:affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canada.</nlm:affiliation></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><nlm:affiliation>1] Department of Clinical Medicine, University of Bergen, Bergen, Norway. [2] Department of Neurology, Haukeland University Hospital, Bergen, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation><nlm:affiliation>Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><nlm:affiliation>1] Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany. [2] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [3] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Saletti, Veronica" sort="Saletti, Veronica" uniqKey="Saletti V" first="Veronica" last="Saletti">Veronica Saletti</name><affiliation><nlm:affiliation>Developmental Neurology Unit, C. Besta Foundation Neurological Institute, IRCCS, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation><nlm:affiliation>1] Department of Neurology, Centro Hospitalar São João, Porto, Portugal. [2] Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Privitera, Michael" sort="Privitera, Michael" uniqKey="Privitera M" first="Michael" last="Privitera">Michael Privitera</name><affiliation><nlm:affiliation>Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA.</nlm:affiliation></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><nlm:affiliation>Gardner Center for Parkinson Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Kauffmann, Birgit" sort="Kauffmann, Birgit" uniqKey="Kauffmann B" first="Birgit" last="Kauffmann">Birgit Kauffmann</name><affiliation><nlm:affiliation>Klinikum Links der Weser, Bremen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Duchowny, Michael" sort="Duchowny, Michael" uniqKey="Duchowny M" first="Michael" last="Duchowny">Michael Duchowny</name><affiliation><nlm:affiliation>1] Brain Institute, Miami Children's Hospital, Miami, Florida, USA. [2] Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.</nlm:affiliation></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><nlm:affiliation>1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation><nlm:affiliation>1] Neurogenetic Clinic, Child Neurology Institute, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel. [2] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation><nlm:affiliation>1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel.</nlm:affiliation></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><nlm:affiliation>1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.</nlm:affiliation></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><nlm:affiliation>1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation></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><nlm:affiliation>1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation><nlm:affiliation>1] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name><affiliation><nlm:affiliation>1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [3] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [5] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. [6] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA. [7] Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:affiliation></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><nlm:affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2015" type="published">2015</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">Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this mutation. KCNC1 encodes KV3.1, a subunit of the KV3 voltage-gated potassium ion channels, which are major determinants of high-frequency neuronal firing. Functional analysis of the Arg320His mutant channel showed a dominant-negative loss-of-function effect. Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1). Identification of mutations in PRNP, SACS and TBC1D24 expand their phenotypic spectra to PME. These findings provide insights into the molecular genetic basis of PME and show the role of de novo mutations in this disease entity.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25401298</PMID><DateCreated><Year>2014</Year><Month>12</Month><Day>30</Day></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>11</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1546-1718</ISSN><JournalIssue CitedMedium="Internet"><Volume>47</Volume><Issue>1</Issue><PubDate><Year>2015</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Nature genetics</Title><ISOAbbreviation>Nat. Genet.</ISOAbbreviation></Journal><ArticleTitle>A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.</ArticleTitle><Pagination><MedlinePgn>39-46</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ng.3144</ELocationID><Abstract><AbstractText>Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this mutation. KCNC1 encodes KV3.1, a subunit of the KV3 voltage-gated potassium ion channels, which are major determinants of high-frequency neuronal firing. Functional analysis of the Arg320His mutant channel showed a dominant-negative loss-of-function effect. Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1). Identification of mutations in PRNP, SACS and TBC1D24 expand their phenotypic spectra to PME. These findings provide insights into the molecular genetic basis of PME and show the role of de novo mutations in this disease entity.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Muona</LastName><ForeName>Mikko</ForeName><Initials>M</Initials><Identifier Source="ORCID">0000000209496650</Identifier><AffiliationInfo><Affiliation>1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Folkhälsan Institute of Genetics, Helsinki, Finland. [3] Neuroscience Center, University of Helsinki, Helsinki, Finland. [4] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berkovic</LastName><ForeName>Samuel F</ForeName><Initials>SF</Initials><AffiliationInfo><Affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dibbens</LastName><ForeName>Leanne M</ForeName><Initials>LM</Initials><AffiliationInfo><Affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Oliver</LastName><ForeName>Karen L</ForeName><Initials>KL</Initials><AffiliationInfo><Affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maljevic</LastName><ForeName>Snezana</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bayly</LastName><ForeName>Marta A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Joensuu</LastName><ForeName>Tarja</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Canafoglia</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Franceschetti</LastName><ForeName>Silvana</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Michelucci</LastName><ForeName>Roberto</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Markkinen</LastName><ForeName>Salla</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heron</LastName><ForeName>Sarah E</ForeName><Initials>SE</Initials><AffiliationInfo><Affiliation>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hildebrand</LastName><ForeName>Michael S</ForeName><Initials>MS</Initials><AffiliationInfo><Affiliation>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andermann</LastName><ForeName>Eva</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andermann</LastName><ForeName>Frederick</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gambardella</LastName><ForeName>Antonio</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Institute of Neurology, University Magna Graecia, Catanzaro, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tinuper</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Licchetta</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>1] Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy. [2] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scheffer</LastName><ForeName>Ingrid E</ForeName><Initials>IE</Initials><AffiliationInfo><Affiliation>1] Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. [2] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [3] Department of Pediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Criscuolo</LastName><ForeName>Chiara</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Filla</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ferlazzo</LastName><ForeName>Edoardo</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>1] Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy. [2] Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahmad</LastName><ForeName>Jamil</ForeName><Initials>J</Initials><Identifier Source="ORCID">0000000203204020</Identifier><AffiliationInfo><Affiliation>Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahmad</LastName><ForeName>Adeel</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Medicine, Mayo Hospital, Lahore, Pakistan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baykan</LastName><ForeName>Betul</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>1] Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. [2] Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Said</LastName><ForeName>Edith</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>1] Department of Anatomy and Cell Biology, University of Malta, Msida, Malta. [2] Section of Medical Genetics, Mater dei Hospital, Msida, Malta.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Topcu</LastName><ForeName>Meral</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Riguzzi</LastName><ForeName>Patrizia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>King</LastName><ForeName>Mary D</ForeName><Initials>MD</Initials><AffiliationInfo><Affiliation>1] Department of Neurology, Temple Street Children's University Hospital, Dublin, Ireland. [2] Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ozkara</LastName><ForeName>Cigdem</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andrade</LastName><ForeName>Danielle M</ForeName><Initials>DM</Initials><AffiliationInfo><Affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Engelsen</LastName><ForeName>Bernt A</ForeName><Initials>BA</Initials><AffiliationInfo><Affiliation>1] Department of Clinical Medicine, University of Bergen, Bergen, Norway. [2] Department of Neurology, Haukeland University Hospital, Bergen, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Crespel</LastName><ForeName>Arielle</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lindenau</LastName><ForeName>Matthias</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>1] Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany. [2] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [3] German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saletti</LastName><ForeName>Veronica</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Developmental Neurology Unit, C. Besta Foundation Neurological Institute, IRCCS, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Massano</LastName><ForeName>João</ForeName><Initials>J</Initials><Identifier Source="ORCID">0000000257917149</Identifier><AffiliationInfo><Affiliation>1] Department of Neurology, Centro Hospitalar São João, Porto, Portugal. [2] Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Privitera</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Espay</LastName><ForeName>Alberto J</ForeName><Initials>AJ</Initials><AffiliationInfo><Affiliation>Gardner Center for Parkinson Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kauffmann</LastName><ForeName>Birgit</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Klinikum Links der Weser, Bremen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Duchowny</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>1] Brain Institute, Miami Children's Hospital, Miami, Florida, USA. [2] Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Møller</LastName><ForeName>Rikke S</ForeName><Initials>RS</Initials><AffiliationInfo><Affiliation>1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Straussberg</LastName><ForeName>Rachel</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>1] Neurogenetic Clinic, Child Neurology Institute, Schneider Children's Medical Center of Israel, Petah Tiqvah, Israel. [2] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Afawi</LastName><ForeName>Zaid</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Zlotowski Center for Neuroscience, Ben-Gurion University, Beer-Sheva, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ben-Zeev</LastName><ForeName>Bruria</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>1] Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel. [2] Pediatric Neurology Unit, Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Samocha</LastName><ForeName>Kaitlin E</ForeName><Initials>KE</Initials><AffiliationInfo><Affiliation>1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Daly</LastName><ForeName>Mark J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrou</LastName><ForeName>Steven</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>1] Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lerche</LastName><ForeName>Holger</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Palotie</LastName><ForeName>Aarno</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>1] Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland. [2] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [3] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [4] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [5] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. [6] Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, USA. [7] Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lehesjoki</LastName><ForeName>Anna-Elina</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>089062</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>098051</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>11</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Nat Genet</MedlineTA><NlmUniqueID>9216904</NlmUniqueID><ISSNLinking>1061-4036</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D002352">Carrier Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D006360">Heat-Shock Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C489597">KCNC1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C512656">PRNP protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000072002">Prion Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011328">Prions</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C404403">SACS protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051670">Shaw Potassium Channels</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C552551">TBC1D24 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2013;9(8):e1003709</RefSource><PMID Version="1">23990802</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 1997 Feb 18;94(4):1533-8</RefSource><PMID Version="1">9037088</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2013 Sep;34(9):E2393-402</RefSource><PMID Version="1">23843252</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2007 Mar;130(Pt 3):843-52</RefSource><PMID Version="1">17347258</PMID></CommentsCorrections><CommentsCorrections 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