Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Identifieur interne : 000C28 ( PubMed/Corpus ); précédent : 000C27; suivant : 000C29Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Auteurs : Karen L. Oliver ; Silvana Franceschetti ; Carol J. Milligan ; Mikko Muona ; Simone A. Mandelstam ; Laura Canafoglia ; Anna M. Boguszewska-Chachulska ; Amos D. Korczyn ; Francesca Bisulli ; Carlo Di Bonaventura ; Francesca Ragona ; Roberto Michelucci ; Bruria Ben-Zeev ; Rachel Straussberg ; Ferruccio Panzica ; João Massano ; Daniel Friedman ; Arielle Crespel ; Bernt A. Engelsen ; Frederick Andermann ; Eva Andermann ; Krystyna Spodar ; Anetta Lasek-Bal ; Patrizia Riguzzi ; Elena Pasini ; Paolo Tinuper ; Laura Licchetta ; Elena Gardella ; Matthias Lindenau ; Annette Wulf ; Rikke S. M Ller ; Felix Benninger ; Zaid Afawi ; Guido Rubboli ; Christopher A. Reid ; Snezana Maljevic ; Holger Lerche ; Anna-Elina Lehesjoki ; Steven Petrou ; Samuel F. BerkovicSource :
- Annals of neurology [ 1531-8249 ] ; 2017.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Ataxia (complications), Ataxia (diagnostic imaging), Ataxia (genetics), Ataxia (physiopathology), Cognitive Dysfunction (etiology), Electroencephalography, Epilepsies, Myoclonic (complications), Epilepsies, Myoclonic (diagnostic imaging), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Shaw Potassium Channels (genetics), Shaw Potassium Channels (metabolism), Syndrome, Young Adult.
- MESH :
- chemical , genetics : Shaw Potassium Channels.
- complications : Ataxia, Epilepsies, Myoclonic.
- diagnostic imaging : Ataxia, Epilepsies, Myoclonic.
- etiology : Cognitive Dysfunction.
- genetics : Ataxia, Epilepsies, Myoclonic.
- chemical , metabolism : Shaw Potassium Channels.
- physiopathology : Ataxia, Epilepsies, Myoclonic.
- Adolescent, Adult, Age of Onset, Electroencephalography, Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Syndrome, Young Adult.
Abstract
To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.
DOI: 10.1002/ana.24929
PubMed: 28380698
Links to Exploration step
pubmed:28380698Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.</title><author><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name><affiliation><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</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 Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><affiliation><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation><nlm:affiliation>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><affiliation><nlm:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</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 Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name><affiliation><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation></affiliation></author><author><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name><affiliation><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><affiliation><nlm:affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><affiliation><nlm:affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, 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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</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>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</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>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, 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>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name><affiliation><nlm:affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</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, Gui de Chauliac Hospital, Montpellier, France.</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>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</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>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</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>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name><affiliation><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation></affiliation></author><author><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><affiliation><nlm:affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><affiliation><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, 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>IRCCS-Institute of Neurological Sciences 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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</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="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</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>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><affiliation><nlm:affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, 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>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><affiliation><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name><affiliation><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</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>Folkhälsan Institute of Genetics, Helsinki, Finland.</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>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</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 Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28380698</idno><idno type="pmid">28380698</idno><idno type="doi">10.1002/ana.24929</idno><idno type="wicri:Area/PubMed/Corpus">000C28</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000C28</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.</title><author><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name><affiliation><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</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 Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><affiliation><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation><nlm:affiliation>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><affiliation><nlm:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</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 Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name><affiliation><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation></affiliation></author><author><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name><affiliation><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><affiliation><nlm:affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><affiliation><nlm:affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, 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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</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>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</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>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, 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>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name><affiliation><nlm:affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</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, Gui de Chauliac Hospital, Montpellier, France.</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>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</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>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</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>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name><affiliation><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation></affiliation></author><author><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><affiliation><nlm:affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><affiliation><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, 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>IRCCS-Institute of Neurological Sciences 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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</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="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name><affiliation><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</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>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><affiliation><nlm:affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, 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>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation></affiliation></author><author><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><affiliation><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name><affiliation><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, 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>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</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>Folkhälsan Institute of Genetics, Helsinki, Finland.</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>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</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 Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Ataxia (complications)</term><term>Ataxia (diagnostic imaging)</term><term>Ataxia (genetics)</term><term>Ataxia (physiopathology)</term><term>Cognitive Dysfunction (etiology)</term><term>Electroencephalography</term><term>Epilepsies, Myoclonic (complications)</term><term>Epilepsies, Myoclonic (diagnostic imaging)</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Female</term><term>HEK293 Cells</term><term>Hot Temperature</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Shaw Potassium Channels (genetics)</term><term>Shaw Potassium Channels (metabolism)</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognitive Dysfunction</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Electroencephalography</term><term>Female</term><term>HEK293 Cells</term><term>Hot Temperature</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Syndrome</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28380698</PMID><DateCreated><Year>2017</Year><Month>04</Month><Day>05</Day></DateCreated><DateCompleted><Year>2017</Year><Month>07</Month><Day>19</Day></DateCompleted><DateRevised><Year>2017</Year><Month>07</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8249</ISSN><JournalIssue CitedMedium="Internet"><Volume>81</Volume><Issue>5</Issue><PubDate><Year>2017</Year><Month>May</Month></PubDate></JournalIssue><Title>Annals of neurology</Title><ISOAbbreviation>Ann. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.</ArticleTitle><Pagination><MedlinePgn>677-689</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ana.24929</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch-clamp to explore biophysical properties of wild-type and mutant KV 3.1 channels.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Symptoms began at between 3 and 15 years of age (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures. Ataxia was present early, but quickly became overshadowed by myoclonus; 10 patients were wheelchair-bound by their late teenage years. Mild cognitive decline occurred in half. Early death was not observed. Electroencephalogram (EEG) showed generalized spike and polyspike wave discharges, with documented photosensitivity in most. Polygraphic EEG-electromyographic studies demonstrated a cortical origin for myoclonus and striking coactivation of agonist and antagonist muscles. Magnetic resonance imaging revealed symmetrical cerebellar atrophy, which appeared progressive, and a prominent corpus callosum. Unexpectedly, transient clinical improvement with fever was noted in 6 patients. To explore this, we performed high-temperature in vitro recordings. At elevated temperatures, there was a robust leftward shift in activation of wild-type KV 3.1, increasing channel availability.</AbstractText><AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">MEAK has a relatively homogeneous presentation, resembling Unverricht-Lundborg disease, despite the genetic and biological basis being quite different. A remarkable improvement with fever may be explained by the temperature-dependent leftward shift in activation of wild-type KV 3.1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689.</AbstractText><CopyrightInformation>© 2017 American Neurological Association.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Oliver</LastName><ForeName>Karen L</ForeName><Initials>KL</Initials><AffiliationInfo><Affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Franceschetti</LastName><ForeName>Silvana</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Milligan</LastName><ForeName>Carol J</ForeName><Initials>CJ</Initials><AffiliationInfo><Affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Muona</LastName><ForeName>Mikko</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Folkhälsan Institute of Genetics, Helsinki, Finland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Neuroscience Center, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mandelstam</LastName><ForeName>Simone A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Departments of Paediatrics and Radiology, University of Melbourne, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Imaging, Royal Children's Hospital, Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Canafoglia</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boguszewska-Chachulska</LastName><ForeName>Anna M</ForeName><Initials>AM</Initials><AffiliationInfo><Affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Korczyn</LastName><ForeName>Amos D</ForeName><Initials>AD</Initials><AffiliationInfo><Affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bisulli</LastName><ForeName>Francesca</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Di Bonaventura</LastName><ForeName>Carlo</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ragona</LastName><ForeName>Francesca</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Michelucci</LastName><ForeName>Roberto</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Unit of Neurology, Bellaria Hospital, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ben-Zeev</LastName><ForeName>Bruria</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Straussberg</LastName><ForeName>Rachel</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Epilepsy Unit, Schneider Children's Medical Center of Israel, Petah Tikvah, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Panzica</LastName><ForeName>Ferruccio</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Massano</LastName><ForeName>João</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Friedman</LastName><ForeName>Daniel</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Crespel</LastName><ForeName>Arielle</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Engelsen</LastName><ForeName>Bernt A</ForeName><Initials>BA</Initials><AffiliationInfo><Affiliation>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andermann</LastName><ForeName>Frederick</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Departments of Neurology & Neurosurgery and Paediatrics, McGill University, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andermann</LastName><ForeName>Eva</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Spodar</LastName><ForeName>Krystyna</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lasek-Bal</LastName><ForeName>Anetta</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Riguzzi</LastName><ForeName>Patrizia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Unit of Neurology, Bellaria Hospital, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pasini</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Unit of Neurology, Bellaria Hospital, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tinuper</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>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>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gardella</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Danish Epilepsy Center, Dianalund, Denmark.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark.</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>Wulf</LastName><ForeName>Annette</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Møller</LastName><ForeName>Rikke S</ForeName><Initials>RS</Initials><AffiliationInfo><Affiliation>Danish Epilepsy Center, Dianalund, Denmark.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Benninger</LastName><ForeName>Felix</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Afawi</LastName><ForeName>Zaid</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rubboli</LastName><ForeName>Guido</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reid</LastName><ForeName>Christopher A</ForeName><Initials>CA</Initials><AffiliationInfo><Affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maljevic</LastName><ForeName>Snezana</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lerche</LastName><ForeName>Holger</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lehesjoki</LastName><ForeName>Anna-Elina</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>Folkhälsan Institute of Genetics, Helsinki, Finland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Neuroscience Center, University of Helsinki, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrou</LastName><ForeName>Steven</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre for Neural Engineering, Department of Electrical Engineering, University of Melbourne, Parkville, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berkovic</LastName><ForeName>Samuel F</ForeName><Initials>SF</Initials><AffiliationInfo><Affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Ann Neurol</MedlineTA><NlmUniqueID>7707449</NlmUniqueID><ISSNLinking>0364-5134</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C489597">KCNC1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051670">Shaw Potassium Channels</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001259" MajorTopicYN="Y">Ataxia</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D060825" MajorTopicYN="N">Cognitive Dysfunction</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004569" MajorTopicYN="N">Electroencephalography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004831" MajorTopicYN="Y">Epilepsies, Myoclonic</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D057809" MajorTopicYN="N">HEK293 Cells</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006358" MajorTopicYN="Y">Hot Temperature</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName 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