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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A recurrent <italic>de novo</italic> mutation in <italic>KCNC1</italic> causes progressive myoclonus epilepsy</title><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></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:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff></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:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><affiliation><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></affiliation></author><author><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><affiliation><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></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:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation><nlm:aff id="A11">Institute of Neurology, University Magna Graecia, Catanzaro, Italy</nlm:aff></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name><affiliation><nlm:aff id="A16">Magna Graecia University, Catanzaro, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy</nlm:aff></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation><nlm:aff id="A18">Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Ahmad, Adeel" sort="Ahmad, Adeel" uniqKey="Ahmad A" first="Adeel" last="Ahmad">Adeel Ahmad</name><affiliation><nlm:aff id="A19">Department of Medicine, Mayo Hospital, Lahore, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name><affiliation><nlm:aff id="A20">Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Said, Edith" sort="Said, Edith" uniqKey="Said E" first="Edith" last="Said">Edith Said</name><affiliation><nlm:aff id="A22">Department of Anatomy & Cell Biology, University of Malta, Msida, Malta</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Section of Medical Genetics, Mater dei Hospital, Msida, Malta</nlm:aff></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topcu">Meral Topcu</name><affiliation><nlm:aff id="A24">Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></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:aff id="A25">Department of Neurology, Temple Street Children’s University Hospital, Dublin, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Ozkara, Cigdem" sort="Ozkara, Cigdem" uniqKey="Ozkara C" first="Cigdem" last="Ozkara">Cigdem Ozkara</name><affiliation><nlm:aff id="A27">Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff></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:aff id="A28">Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Canada</nlm:aff></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:aff id="A29">Department of Clinical Medicine, University of Bergen, Bergen, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A30">Department of Neurology, Haukeland University Hospital, Bergen, Norway</nlm:aff></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation><nlm:aff id="A31">Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A34">DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Saletti, Veronica" sort="Saletti, Veronica" uniqKey="Saletti V" first="Veronica" last="Saletti">Veronica Saletti</name><affiliation><nlm:aff id="A35">Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation><nlm:aff id="A36">Department of Neurology, Centro Hospitalar São João, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A37">Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Privitera, Michael" sort="Privitera, Michael" uniqKey="Privitera M" first="Michael" last="Privitera">Michael Privitera</name><affiliation><nlm:aff id="A38">Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA</nlm:aff></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:aff id="A39">Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Kauffmann, Birgit" sort="Kauffmann, Birgit" uniqKey="Kauffmann B" first="Birgit" last="Kauffmann">Birgit Kauffmann</name><affiliation><nlm:aff id="A40">Klinikum Links der Weser, Bremen, Germany</nlm:aff></affiliation></author><author><name sortKey="Duchowny, Michael" sort="Duchowny, Michael" uniqKey="Duchowny M" first="Michael" last="Duchowny">Michael Duchowny</name><affiliation><nlm:aff id="A41">Brain Institute, Miami Children’s Hospital, Miami, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A42">Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA</nlm:aff></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:aff id="A43">Danish Epilepsy Centre, Dianalund, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation><nlm:aff id="A45">Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Zlotowski Center for Neuroscience, Ben-Gurion University, Israel</nlm:aff></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:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A48">Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan, Israel</nlm:aff></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:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A52">Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA</nlm:aff></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:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A53">The Centre for Neural Engineering, University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name><affiliation><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A54">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A55">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A56">Department of Neurology, Massachusetts General Hospital, Boston, MA, USA</nlm:aff></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:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25401298</idno><idno type="pmc">4281260</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281260</idno><idno type="RBID">PMC:4281260</idno><idno type="doi">10.1038/ng.3144</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002147</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002147</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A recurrent <italic>de novo</italic> mutation in <italic>KCNC1</italic> causes progressive myoclonus epilepsy</title><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></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:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff></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:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Joensuu, Tarja" sort="Joensuu, Tarja" uniqKey="Joensuu T" first="Tarja" last="Joensuu">Tarja Joensuu</name><affiliation><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation><nlm:aff id="A8">Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></affiliation></author><author><name sortKey="Markkinen, Salla" sort="Markkinen, Salla" uniqKey="Markkinen S" first="Salla" last="Markkinen">Salla Markkinen</name><affiliation><nlm:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></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:aff id="A6">School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation><nlm:aff id="A10">Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</nlm:aff></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation><nlm:aff id="A11">Institute of Neurology, University Magna Graecia, Catanzaro, Italy</nlm:aff></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</nlm:aff></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:aff id="A5">Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A14">Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Criscuolo, Chiara" sort="Criscuolo, Chiara" uniqKey="Criscuolo C" first="Chiara" last="Criscuolo">Chiara Criscuolo</name><affiliation><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation><nlm:aff id="A15">Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</nlm:aff></affiliation></author><author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name><affiliation><nlm:aff id="A16">Magna Graecia University, Catanzaro, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A17">Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy</nlm:aff></affiliation></author><author><name sortKey="Ahmad, Jamil" sort="Ahmad, Jamil" uniqKey="Ahmad J" first="Jamil" last="Ahmad">Jamil Ahmad</name><affiliation><nlm:aff id="A18">Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Ahmad, Adeel" sort="Ahmad, Adeel" uniqKey="Ahmad A" first="Adeel" last="Ahmad">Adeel Ahmad</name><affiliation><nlm:aff id="A19">Department of Medicine, Mayo Hospital, Lahore, Pakistan</nlm:aff></affiliation></author><author><name sortKey="Baykan, Betul" sort="Baykan, Betul" uniqKey="Baykan B" first="Betul" last="Baykan">Betul Baykan</name><affiliation><nlm:aff id="A20">Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey</nlm:aff></affiliation><affiliation><nlm:aff id="A21">Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey</nlm:aff></affiliation></author><author><name sortKey="Said, Edith" sort="Said, Edith" uniqKey="Said E" first="Edith" last="Said">Edith Said</name><affiliation><nlm:aff id="A22">Department of Anatomy & Cell Biology, University of Malta, Msida, Malta</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Section of Medical Genetics, Mater dei Hospital, Msida, Malta</nlm:aff></affiliation></author><author><name sortKey="Topcu, Meral" sort="Topcu, Meral" uniqKey="Topcu M" first="Meral" last="Topcu">Meral Topcu</name><affiliation><nlm:aff id="A24">Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation><nlm:aff id="A9">IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</nlm:aff></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:aff id="A25">Department of Neurology, Temple Street Children’s University Hospital, Dublin, Ireland</nlm:aff></affiliation><affiliation><nlm:aff id="A26">Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Ozkara, Cigdem" sort="Ozkara, Cigdem" uniqKey="Ozkara C" first="Cigdem" last="Ozkara">Cigdem Ozkara</name><affiliation><nlm:aff id="A27">Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff></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:aff id="A28">Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Canada</nlm:aff></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:aff id="A29">Department of Clinical Medicine, University of Bergen, Bergen, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A30">Department of Neurology, Haukeland University Hospital, Bergen, Norway</nlm:aff></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation><nlm:aff id="A31">Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><affiliation><nlm:aff id="A32">Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A34">DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Saletti, Veronica" sort="Saletti, Veronica" uniqKey="Saletti V" first="Veronica" last="Saletti">Veronica Saletti</name><affiliation><nlm:aff id="A35">Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation><nlm:aff id="A36">Department of Neurology, Centro Hospitalar São João, Porto, Portugal</nlm:aff></affiliation><affiliation><nlm:aff id="A37">Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Privitera, Michael" sort="Privitera, Michael" uniqKey="Privitera M" first="Michael" last="Privitera">Michael Privitera</name><affiliation><nlm:aff id="A38">Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA</nlm:aff></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:aff id="A39">Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA</nlm:aff></affiliation></author><author><name sortKey="Kauffmann, Birgit" sort="Kauffmann, Birgit" uniqKey="Kauffmann B" first="Birgit" last="Kauffmann">Birgit Kauffmann</name><affiliation><nlm:aff id="A40">Klinikum Links der Weser, Bremen, Germany</nlm:aff></affiliation></author><author><name sortKey="Duchowny, Michael" sort="Duchowny, Michael" uniqKey="Duchowny M" first="Michael" last="Duchowny">Michael Duchowny</name><affiliation><nlm:aff id="A41">Brain Institute, Miami Children’s Hospital, Miami, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A42">Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA</nlm:aff></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:aff id="A43">Danish Epilepsy Centre, Dianalund, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="A44">Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation><nlm:aff id="A45">Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation><nlm:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A47">Zlotowski Center for Neuroscience, Ben-Gurion University, Israel</nlm:aff></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:aff id="A46">Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</nlm:aff></affiliation><affiliation><nlm:aff id="A48">Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan, Israel</nlm:aff></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:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A52">Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA</nlm:aff></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:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation><nlm:aff id="A13">The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A53">The Centre for Neural Engineering, University of Melbourne, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation><nlm:aff id="A7">Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Palotie, Aarno" sort="Palotie, Aarno" uniqKey="Palotie A" first="Aarno" last="Palotie">Aarno Palotie</name><affiliation><nlm:aff id="A1">Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A49">Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A51">Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A54">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A55">Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A56">Department of Neurology, Massachusetts General Hospital, Boston, MA, USA</nlm:aff></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:aff id="A2">Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Neuroscience Center, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P3">Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures, and ataxia. We exome-sequenced 84 unrelated PME patients of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent <italic>de novo</italic> mutation c.959G>A (p.Arg320His) in <italic>KCNC1</italic> was identified as a novel major cause for PME. Eleven unrelated exome-sequenced (13%) and two patients in a secondary cohort (7%) had this mutation. <italic>KCNC1</italic> encodes K<sub>V</sub>3.1, a subunit of the K<sub>V</sub>3 voltage-gated K<sup>+</sup> channels, major determinants of high-frequency neuronal firing. Functional analysis of the p.Arg320His mutant channel revealed a dominant-negative loss-of-function effect. Ten patients had pathogenic mutations in known PME-associated genes (<italic>NEU1, NHLRC1, AFG3L2, EPM2A, CLN6, SERPINI1</italic>). Identification of mutations in <italic>PRNP, SACS</italic>, and <italic>TBC1D24</italic> expand their phenotypic spectrum to PME. These findings provide important insights into the molecular genetic basis of PME and reveal the role of <italic>de novo</italic> mutations in this disease entity.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25401298</article-id><article-id pub-id-type="pmc">4281260</article-id><article-id pub-id-type="doi">10.1038/ng.3144</article-id><article-id pub-id-type="manuscript">EMS60739</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A recurrent <italic>de novo</italic> mutation in <italic>KCNC1</italic> causes progressive myoclonus epilepsy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Muona</surname><given-names>Mikko</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Berkovic</surname><given-names>Samuel F</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Dibbens</surname><given-names>Leanne M</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Oliver</surname><given-names>Karen L</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Maljevic</surname><given-names>Snezana</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Bayly</surname><given-names>Marta A</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Joensuu</surname><given-names>Tarja</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Canafoglia</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Franceschetti</surname><given-names>Silvana</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Michelucci</surname><given-names>Roberto</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Markkinen</surname><given-names>Salla</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Heron</surname><given-names>Sarah E</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Hildebrand</surname><given-names>Michael S</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Andermann</surname><given-names>Eva</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Andermann</surname><given-names>Frederick</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Gambardella</surname><given-names>Antonio</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Tinuper</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Licchetta</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Scheffer</surname><given-names>Ingrid E</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Criscuolo</surname><given-names>Chiara</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Filla</surname><given-names>Alessandro</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Ferlazzo</surname><given-names>Edoardo</given-names></name><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Ahmad</surname><given-names>Jamil</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Ahmad</surname><given-names>Adeel</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib 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S</given-names></name><xref ref-type="aff" rid="A43">43</xref><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Straussberg</surname><given-names>Rachel</given-names></name><xref ref-type="aff" rid="A45">45</xref><xref ref-type="aff" rid="A46">46</xref></contrib><contrib contrib-type="author"><name><surname>Afawi</surname><given-names>Zaid</given-names></name><xref ref-type="aff" rid="A46">46</xref><xref ref-type="aff" rid="A47">47</xref></contrib><contrib contrib-type="author"><name><surname>Ben-Zeev</surname><given-names>Bruria</given-names></name><xref ref-type="aff" rid="A46">46</xref><xref ref-type="aff" rid="A48">48</xref></contrib><contrib contrib-type="author"><name><surname>Samocha</surname><given-names>Kaitlin E</given-names></name><xref ref-type="aff" rid="A49">49</xref><xref ref-type="aff" rid="A50">50</xref><xref ref-type="aff" rid="A51">51</xref><xref ref-type="aff" rid="A52">52</xref></contrib><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mark J</given-names></name><xref ref-type="aff" rid="A49">49</xref><xref ref-type="aff" rid="A50">50</xref><xref ref-type="aff" rid="A51">51</xref></contrib><contrib contrib-type="author"><name><surname>Petrou</surname><given-names>Steven</given-names></name><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A53">53</xref></contrib><contrib contrib-type="author"><name><surname>Lerche</surname><given-names>Holger</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Palotie</surname><given-names>Aarno</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A49">49</xref><xref ref-type="aff" rid="A50">50</xref><xref ref-type="aff" rid="A51">51</xref><xref ref-type="aff" rid="A54">54</xref><xref ref-type="aff" rid="A55">55</xref><xref ref-type="aff" rid="A56">56</xref></contrib><contrib contrib-type="author"><name><surname>Lehesjoki</surname><given-names>Anna-Elina</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib></contrib-group><aff id="A1"><label>1</label>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland</aff><aff id="A2"><label>2</label>Folkhälsan Institute of Genetics, Helsinki, Finland</aff><aff id="A3"><label>3</label>Neuroscience Center, University of Helsinki, Helsinki, Finland</aff><aff id="A4"><label>4</label>Research Program’s Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland</aff><aff id="A5"><label>5</label>Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia</aff><aff id="A6"><label>6</label>School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia</aff><aff id="A7"><label>7</label>Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</aff><aff id="A8"><label>8</label>Department of Neurophysiopathology, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</aff><aff id="A9"><label>9</label>IRCCS - Institute of Neurological Sciences of Bologna, Neurology Unit, Bellaria Hospital, Bologna, Italy</aff><aff id="A10"><label>10</label>Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada</aff><aff id="A11"><label>11</label>Institute of Neurology, University Magna Graecia, Catanzaro, Italy</aff><aff id="A12"><label>12</label>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy</aff><aff id="A13"><label>13</label>The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia</aff><aff id="A14"><label>14</label>Department of Pediatrics, Royal Children’s Hospital, University of Melbourne, Victoria, Australia</aff><aff id="A15"><label>15</label>Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University, Naples, Italy</aff><aff id="A16"><label>16</label>Magna Graecia University, Catanzaro, Italy</aff><aff id="A17"><label>17</label>Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy</aff><aff id="A18"><label>18</label>Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Pakistan</aff><aff id="A19"><label>19</label>Department of Medicine, Mayo Hospital, Lahore, Pakistan</aff><aff id="A20"><label>20</label>Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey</aff><aff id="A21"><label>21</label>Epilepsy Center (EPIMER), Istanbul University, Istanbul, Turkey</aff><aff id="A22"><label>22</label>Department of Anatomy & Cell Biology, University of Malta, Msida, Malta</aff><aff id="A23"><label>23</label>Section of Medical Genetics, Mater dei Hospital, Msida, Malta</aff><aff id="A24"><label>24</label>Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey</aff><aff id="A25"><label>25</label>Department of Neurology, Temple Street Children’s University Hospital, Dublin, Ireland</aff><aff id="A26"><label>26</label>Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland</aff><aff id="A27"><label>27</label>Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey</aff><aff id="A28"><label>28</label>Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Krembil Neurosciences Program, Toronto, Canada</aff><aff id="A29"><label>29</label>Department of Clinical Medicine, University of Bergen, Bergen, Norway</aff><aff id="A30"><label>30</label>Department of Neurology, Haukeland University Hospital, Bergen, Norway</aff><aff id="A31"><label>31</label>Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France</aff><aff id="A32"><label>32</label>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany</aff><aff id="A33"><label>33</label>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</aff><aff id="A34"><label>34</label>DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany</aff><aff id="A35"><label>35</label>Developmental Neurology Unit, C. Besta Foundation Neurological Institute IRCCS, Milan, Italy</aff><aff id="A36"><label>36</label>Department of Neurology, Centro Hospitalar São João, Porto, Portugal</aff><aff id="A37"><label>37</label>Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal</aff><aff id="A38"><label>38</label>Epilepsy Center, University of Cincinnati Neuroscience Institute, Cincinnati, Ohio, USA</aff><aff id="A39"><label>39</label>Gardner Center for Parkinson disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA</aff><aff id="A40"><label>40</label>Klinikum Links der Weser, Bremen, Germany</aff><aff id="A41"><label>41</label>Brain Institute, Miami Children’s Hospital, Miami, Florida, USA</aff><aff id="A42"><label>42</label>Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA</aff><aff id="A43"><label>43</label>Danish Epilepsy Centre, Dianalund, Denmark</aff><aff id="A44"><label>44</label>Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark</aff><aff id="A45"><label>45</label>Neurogenetic Clinic, Child Neurology Institute, Schneider Children’s Medical Center of Israel, Petah Tiqvah, Israel</aff><aff id="A46"><label>46</label>Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel</aff><aff id="A47"><label>47</label>Zlotowski Center for Neuroscience, Ben-Gurion University, Israel</aff><aff id="A48"><label>48</label>Pediatric Neurology Unit, Edmond and Lilly Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan, Israel</aff><aff id="A49"><label>49</label>Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA</aff><aff id="A50"><label>50</label>Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</aff><aff id="A51"><label>51</label>Stanley Center for Psychiatric Research, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA</aff><aff id="A52"><label>52</label>Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA</aff><aff id="A53"><label>53</label>The Centre for Neural Engineering, University of Melbourne, Victoria, Australia</aff><aff id="A54"><label>54</label>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK</aff><aff id="A55"><label>55</label>Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA</aff><aff id="A56"><label>56</label>Department of Neurology, Massachusetts General Hospital, Boston, MA, USA</aff><author-notes><corresp id="CR1">Correspondence should be addressed to Anna-Elina Lehesjoki (<email>anna-elina.lehesjoki@helsinki.fi</email>)</corresp><fn id="FN3"><p id="P1"><bold>Author Contributions</bold></p><p id="P2"><italic>Study design and management:</italic> S.F.B., L.M.D., A.P., A.-E.L. <italic>Coordination of the collection of study subjects and clinical data:</italic> S.F.B., K.L.O., M.A.B., A.-E.L. <italic>Subject ascertainment and phenotyping:</italic> S.F.B., K.L.O., L.C., S.F., R.M., E.A., F.A., A.G., P.T., L.L., I.E.S., C.C., A.F., E.F., J.A., A.A., B.B., E.S., M.T., P.R., M.D.K., C.O., D.M.A., B.A.E., A.C., M.L., E.L., V.S., J.M., M.P., A.E., B.K., M.D., R.S.M., R.S., Z.A., B.B.-Z. <italic>Analysis of the exome sequencing data:</italic> M.M., S.Mar. <italic>Sanger sequencing and sequence data analysis, mosaicism analysis:</italic> M.M., M.A.B., T.J., S.E.H., M.S.H. <italic>Interpretation of genetic data:</italic> M.M., S.F.B., L.M.D., A.P., A.-E.L. <italic>Evaluation of the mutation rate in KCNC1:</italic> K.E.S., M.J.D. <italic>Functional analysis and interpretation:</italic> S.Mal., S.P., H.L. <italic>Manuscript writing:</italic> M.M., S.F.B., L.M.D., K.L.O., S.Mal., H.L., A.P., A.-E.L. All authors critically revised the manuscript.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>11</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>17</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2015</year></pub-date><volume>47</volume><issue>1</issue><fpage>39</fpage><lpage>46</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.3144</pmc-comment>
<abstract><p id="P3">Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures, and ataxia. We exome-sequenced 84 unrelated PME patients of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent <italic>de novo</italic> mutation c.959G>A (p.Arg320His) in <italic>KCNC1</italic> was identified as a novel major cause for PME. Eleven unrelated exome-sequenced (13%) and two patients in a secondary cohort (7%) had this mutation. <italic>KCNC1</italic> encodes K<sub>V</sub>3.1, a subunit of the K<sub>V</sub>3 voltage-gated K<sup>+</sup> channels, major determinants of high-frequency neuronal firing. Functional analysis of the p.Arg320His mutant channel revealed a dominant-negative loss-of-function effect. Ten patients had pathogenic mutations in known PME-associated genes (<italic>NEU1, NHLRC1, AFG3L2, EPM2A, CLN6, SERPINI1</italic>). Identification of mutations in <italic>PRNP, SACS</italic>, and <italic>TBC1D24</italic> expand their phenotypic spectrum to PME. These findings provide important insights into the molecular genetic basis of PME and reveal the role of <italic>de novo</italic> mutations in this disease entity.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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