Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Identifieur interne : 004589 ( Ncbi/Merge ); précédent : 004588; suivant : 004590Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Auteurs : Karen L. Oliver [Australie] ; Silvana Franceschetti [Italie] ; Carol J. Milligan [Australie] ; Mikko Muona [Finlande] ; Simone A. Mandelstam [Australie] ; Laura Canafoglia [Italie] ; Anna M. Boguszewska-Chachulska [Pologne] ; Amos D. Korczyn [Israël] ; Francesca Bisulli [Italie] ; Carlo Di Bonaventura [Italie] ; Francesca Ragona [Italie] ; Roberto Michelucci [Italie] ; Bruria Ben-Zeev [Israël] ; Rachel Straussberg [Israël] ; Ferruccio Panzica [Italie] ; João Massano [Portugal] ; Daniel Friedman [États-Unis] ; Arielle Crespel [France] ; Bernt A. Engelsen [Norvège] ; Frederick Andermann [Canada] ; Eva Andermann [Canada] ; Krystyna Spodar [Pologne] ; Anetta Lasek-Bal [Pologne] ; Patrizia Riguzzi [Italie] ; Elena Pasini [Italie] ; Paolo Tinuper [Italie] ; Laura Licchetta [Italie] ; Elena Gardella [Danemark] ; Matthias Lindenau [Allemagne] ; Annette Wulf [Allemagne] ; Rikke S. M Ller [Danemark] ; Felix Benninger [Israël] ; Zaid Afawi [Israël] ; Guido Rubboli [Italie] ; Christopher A. Reid [Australie] ; Snezana Maljevic [Australie] ; Holger Lerche [Allemagne] ; Anna-Elina Lehesjoki [Finlande] ; Steven Petrou [Australie] ; Samuel F. Berkovic [Australie]Source :
- Annals of neurology [ 1531-8249 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Ataxie (), Ataxie (génétique), Ataxie (imagerie diagnostique), Ataxie (physiopathologie), Canaux potassiques Shaw (génétique), Canaux potassiques Shaw (métabolisme), Cellules HEK293, Dysfonctionnement cognitif (étiologie), Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mutation, Mâle, Pedigree, Syndrome, Température élevée, Âge de début, Électroencéphalographie, Épilepsies myocloniques (), Épilepsies myocloniques (génétique), Épilepsies myocloniques (imagerie diagnostique), Épilepsies myocloniques (physiopathologie).
- MESH :
- génétique : Ataxie, Canaux potassiques Shaw, Épilepsies myocloniques.
- imagerie diagnostique : Ataxie, Épilepsies myocloniques.
- métabolisme : Canaux potassiques Shaw.
- physiopathologie : Ataxie, Épilepsies myocloniques.
- étiologie : Dysfonctionnement cognitif.
- Adolescent, Adulte, Adulte d'âge moyen, Ataxie, Cellules HEK293, Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mutation, Mâle, Pedigree, Syndrome, Température élevée, Âge de début, Électroencéphalographie, Épilepsies myocloniques.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Ataxia (complications), Ataxia (diagnostic imaging), Ataxia (genetics), Ataxia (physiopathology), Cognitive Dysfunction (etiology), Electroencephalography, Epilepsies, Myoclonic (complications), Epilepsies, Myoclonic (diagnostic imaging), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Shaw Potassium Channels (genetics), Shaw Potassium Channels (metabolism), Syndrome, Young Adult.
- MESH :
- chemical , genetics : Shaw Potassium Channels.
- complications : Ataxia, Epilepsies, Myoclonic.
- diagnostic imaging : Ataxia, Epilepsies, Myoclonic.
- etiology : Cognitive Dysfunction.
- genetics : Ataxia, Epilepsies, Myoclonic.
- chemical , metabolism : Shaw Potassium Channels.
- physiopathology : Ataxia, Epilepsies, Myoclonic.
- Adolescent, Adult, Age of Onset, Electroencephalography, Female, HEK293 Cells, Hot Temperature, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Syndrome, Young Adult.
Abstract
To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.
DOI: 10.1002/ana.24929
PubMed: 28380698
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000C28
- to stream PubMed, to step Curation: 000C25
- to stream PubMed, to step Checkpoint: 000C25
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 wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation wicri:level="4"><nlm:affiliation>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><affiliation wicri:level="1"><nlm:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Rome, La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora</wicri:regionArea><wicri:noRegion>Senhora da Hora</wicri:noRegion></affiliation></author><author><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name><affiliation wicri:level="2"><nlm:affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation wicri:level="3"><nlm:affiliation>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Medicine, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><affiliation wicri:level="1"><nlm:affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah</wicri:regionArea><wicri:noRegion>Petah Tikvah</wicri:noRegion></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation wicri:level="3"><nlm:affiliation>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation wicri:level="1"><nlm:affiliation>Folkhälsan Institute of Genetics, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28380698</idno><idno type="pmid">28380698</idno><idno type="doi">10.1002/ana.24929</idno><idno type="wicri:Area/PubMed/Corpus">000C28</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000C28</idno><idno type="wicri:Area/PubMed/Curation">000C25</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000C25</idno><idno type="wicri:Area/PubMed/Checkpoint">000C25</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000C25</idno><idno type="wicri:Area/Ncbi/Merge">004589</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.</title><author><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name><affiliation wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name><affiliation wicri:level="4"><nlm:affiliation>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Institute for Molecular Medicine Finland, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><affiliation wicri:level="1"><nlm:affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurological Sciences, University of Rome, La Sapienza, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Rome, La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatric Neuroscience, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology, C. Besta Neurological Institute IRCCS Foundation, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Neurology, Hospital Pedro Hispano/ULS Matosinhos, Senhora da Hora</wicri:regionArea><wicri:noRegion>Senhora da Hora</wicri:noRegion></affiliation></author><author><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name><affiliation wicri:level="2"><nlm:affiliation>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Comprehensive Epilepsy Center, New York University Langone Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name><affiliation wicri:level="3"><nlm:affiliation>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy Unit, Gui de Chauliac Hospital, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Medicine, University of Bergen, Bergen, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Clinical Medicine, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Hospital and Institute, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name><affiliation wicri:level="1"><nlm:affiliation>Genomed Health Care Center, Genomed, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Genomed Health Care Center, Genomed, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><affiliation wicri:level="1"><nlm:affiliation>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>High School of Science, Medical University of Silesia, Department of Neurology, Upper Silesian Medical Center, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author><author><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Epileptology, Epilepsy Center Hamburg-Alsterdorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name><affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Center, Dianalund, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Epilepsy Center, Dianalund</wicri:regionArea><wicri:noRegion>Dianalund</wicri:noRegion></affiliation></author><author><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikvah</wicri:regionArea><wicri:noRegion>Petah Tikvah</wicri:noRegion></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS-Institute of Neurological Sciences of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Institute of Neurological Sciences of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation wicri:level="3"><nlm:affiliation>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name><affiliation wicri:level="1"><nlm:affiliation>Folkhälsan Institute of Genetics, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation></author><author><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><affiliation wicri:level="1"><nlm:affiliation>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author></analytic><series><title level="j">Annals of neurology</title><idno type="eISSN">1531-8249</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Ataxia (complications)</term><term>Ataxia (diagnostic imaging)</term><term>Ataxia (genetics)</term><term>Ataxia (physiopathology)</term><term>Cognitive Dysfunction (etiology)</term><term>Electroencephalography</term><term>Epilepsies, Myoclonic (complications)</term><term>Epilepsies, Myoclonic (diagnostic imaging)</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Female</term><term>HEK293 Cells</term><term>Hot Temperature</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Shaw Potassium Channels (genetics)</term><term>Shaw Potassium Channels (metabolism)</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Ataxie ()</term><term>Ataxie (génétique)</term><term>Ataxie (imagerie diagnostique)</term><term>Ataxie (physiopathologie)</term><term>Canaux potassiques Shaw (génétique)</term><term>Canaux potassiques Shaw (métabolisme)</term><term>Cellules HEK293</term><term>Dysfonctionnement cognitif (étiologie)</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term><term>Température élevée</term><term>Âge de début</term><term>Électroencéphalographie</term><term>Épilepsies myocloniques ()</term><term>Épilepsies myocloniques (génétique)</term><term>Épilepsies myocloniques (imagerie diagnostique)</term><term>Épilepsies myocloniques (physiopathologie)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognitive Dysfunction</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Ataxie</term><term>Canaux potassiques Shaw</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Ataxie</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Shaw Potassium Channels</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Canaux potassiques Shaw</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Ataxie</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Dysfonctionnement cognitif</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Electroencephalography</term><term>Female</term><term>HEK293 Cells</term><term>Hot Temperature</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Ataxie</term><term>Cellules HEK293</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term><term>Température élevée</term><term>Âge de début</term><term>Électroencéphalographie</term><term>Épilepsies myocloniques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever.</div></front></TEI><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 UI="D051670" MajorTopicYN="N">Shaw Potassium Channels</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>11</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2017</Year><Month>03</Month><Day>31</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>03</Month><Day>31</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>4</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>7</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>4</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28380698</ArticleId><ArticleId IdType="doi">10.1002/ana.24929</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>Danemark</li><li>Finlande</li><li>France</li><li>Israël</li><li>Italie</li><li>Norvège</li><li>Pologne</li><li>Portugal</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Hambourg</li><li>Languedoc-Roussillon</li><li>Latium</li><li>Lombardie</li><li>Occitanie (région administrative)</li><li>Uusimaa</li><li>Victoria (État)</li><li>État de New York</li></region><settlement><li>Hambourg</li><li>Helsinki</li><li>Melbourne</li><li>Milan</li><li>Montpellier</li><li>Rome</li><li>Tübingen</li></settlement><orgName><li>Université d'Helsinki</li><li>Université de Melbourne</li></orgName></list><tree><country name="Australie"><region name="Victoria (État)"><name sortKey="Oliver, Karen L" sort="Oliver, Karen L" uniqKey="Oliver K" first="Karen L" last="Oliver">Karen L. Oliver</name></region><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name><name sortKey="Maljevic, Snezana" sort="Maljevic, Snezana" uniqKey="Maljevic S" first="Snezana" last="Maljevic">Snezana Maljevic</name><name sortKey="Mandelstam, Simone A" sort="Mandelstam, Simone A" uniqKey="Mandelstam S" first="Simone A" last="Mandelstam">Simone A. Mandelstam</name><name sortKey="Milligan, Carol J" sort="Milligan, Carol J" uniqKey="Milligan C" first="Carol J" last="Milligan">Carol J. Milligan</name><name sortKey="Petrou, Steven" sort="Petrou, Steven" uniqKey="Petrou S" first="Steven" last="Petrou">Steven Petrou</name><name sortKey="Reid, Christopher A" sort="Reid, Christopher A" uniqKey="Reid C" first="Christopher A" last="Reid">Christopher A. Reid</name></country><country name="Italie"><region name="Lombardie"><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name></region><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><name sortKey="Di Bonaventura, Carlo" sort="Di Bonaventura, Carlo" uniqKey="Di Bonaventura C" first="Carlo" last="Di Bonaventura">Carlo Di Bonaventura</name><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><name sortKey="Michelucci, Roberto" sort="Michelucci, Roberto" uniqKey="Michelucci R" first="Roberto" last="Michelucci">Roberto Michelucci</name><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><name sortKey="Pasini, Elena" sort="Pasini, Elena" uniqKey="Pasini E" first="Elena" last="Pasini">Elena Pasini</name><name sortKey="Ragona, Francesca" sort="Ragona, Francesca" uniqKey="Ragona F" first="Francesca" last="Ragona">Francesca Ragona</name><name sortKey="Riguzzi, Patrizia" sort="Riguzzi, Patrizia" uniqKey="Riguzzi P" first="Patrizia" last="Riguzzi">Patrizia Riguzzi</name><name sortKey="Rubboli, Guido" sort="Rubboli, Guido" uniqKey="Rubboli G" first="Guido" last="Rubboli">Guido Rubboli</name><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name></country><country name="Finlande"><region name="Uusimaa"><name sortKey="Muona, Mikko" sort="Muona, Mikko" uniqKey="Muona M" first="Mikko" last="Muona">Mikko Muona</name></region><name sortKey="Lehesjoki, Anna Elina" sort="Lehesjoki, Anna Elina" uniqKey="Lehesjoki A" first="Anna-Elina" last="Lehesjoki">Anna-Elina Lehesjoki</name></country><country name="Pologne"><noRegion><name sortKey="Boguszewska Chachulska, Anna M" sort="Boguszewska Chachulska, Anna M" uniqKey="Boguszewska Chachulska A" first="Anna M" last="Boguszewska-Chachulska">Anna M. Boguszewska-Chachulska</name></noRegion><name sortKey="Lasek Bal, Anetta" sort="Lasek Bal, Anetta" uniqKey="Lasek Bal A" first="Anetta" last="Lasek-Bal">Anetta Lasek-Bal</name><name sortKey="Spodar, Krystyna" sort="Spodar, Krystyna" uniqKey="Spodar K" first="Krystyna" last="Spodar">Krystyna Spodar</name></country><country name="Israël"><noRegion><name sortKey="Korczyn, Amos D" sort="Korczyn, Amos D" uniqKey="Korczyn A" first="Amos D" last="Korczyn">Amos D. Korczyn</name></noRegion><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><name sortKey="Ben Zeev, Bruria" sort="Ben Zeev, Bruria" uniqKey="Ben Zeev B" first="Bruria" last="Ben-Zeev">Bruria Ben-Zeev</name><name sortKey="Benninger, Felix" sort="Benninger, Felix" uniqKey="Benninger F" first="Felix" last="Benninger">Felix Benninger</name><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name></country><country name="Portugal"><noRegion><name sortKey="Massano, Joao" sort="Massano, Joao" uniqKey="Massano J" first="João" last="Massano">João Massano</name></noRegion></country><country name="États-Unis"><region name="État de New York"><name sortKey="Friedman, Daniel" sort="Friedman, Daniel" uniqKey="Friedman D" first="Daniel" last="Friedman">Daniel Friedman</name></region></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Crespel, Arielle" sort="Crespel, Arielle" uniqKey="Crespel A" first="Arielle" last="Crespel">Arielle Crespel</name></region></country><country name="Norvège"><noRegion><name sortKey="Engelsen, Bernt A" sort="Engelsen, Bernt A" uniqKey="Engelsen B" first="Bernt A" last="Engelsen">Bernt A. Engelsen</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Andermann, Frederick" sort="Andermann, Frederick" uniqKey="Andermann F" first="Frederick" last="Andermann">Frederick Andermann</name></noRegion><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name></country><country name="Danemark"><noRegion><name sortKey="Gardella, Elena" sort="Gardella, Elena" uniqKey="Gardella E" first="Elena" last="Gardella">Elena Gardella</name></noRegion><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S" last="M Ller">Rikke S. M Ller</name></country><country name="Allemagne"><region name="Hambourg"><name sortKey="Lindenau, Matthias" sort="Lindenau, Matthias" uniqKey="Lindenau M" first="Matthias" last="Lindenau">Matthias Lindenau</name></region><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><name sortKey="Wulf, Annette" sort="Wulf, Annette" uniqKey="Wulf A" first="Annette" last="Wulf">Annette Wulf</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004589 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 004589 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= pubmed:28380698
|texte= Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:28380698" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |