Do mutations in SCN1B cause Dravet syndrome?
Identifieur interne : 005015 ( Main/Exploration ); précédent : 005014; suivant : 005016Do mutations in SCN1B cause Dravet syndrome?
Auteurs : YOUNG OK KIM [Australie, Corée du Sud] ; Leanne Dibbens [Australie] ; Carla Marini [Italie] ; Arvid Suls [Belgique] ; Nicole Chemaly [France] ; Davide Mei [Italie] ; Jacinta M. Mcmahon [Australie] ; Xenia Lona [Australie] ; Samuel F. Berkovic [Australie] ; Peter De Jonghe [Belgique] ; Renzo Guerrini [Italie] ; Rima Nabbout [France] ; Ingrid E. Scheffer [Australie]Source :
- Epilepsy research [ 0920-1211 ] ; 2013.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.
Affiliations:
- Australie, Belgique, Corée du Sud, France, Italie
- Province d'Anvers, Région flamande, Toscane, Victoria (État), Île-de-France
- Anvers, Melbourne, Paris, Pise
- Université d'Anvers, Université de Melbourne
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000C54
- to stream PascalFrancis, to step Curation: 005211
- to stream PascalFrancis, to step Checkpoint: 000A19
- to stream Main, to step Merge: 005193
- to stream Main, to step Curation: 005015
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Do mutations in SCN1B cause Dravet syndrome?</title><author><name sortKey="Young Ok Kim" sort="Young Ok Kim" uniqKey="Young Ok Kim" last="Young Ok Kim">YOUNG OK KIM</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pediatrics, School of Medicine, Chonnam National University</s1><s2>Gwangju</s2><s3>KOR</s3><sZ>1 aut.</sZ></inist:fA14><country>Corée du Sud</country><wicri:noRegion>Gwangju</wicri:noRegion></affiliation></author><author><name sortKey="Dibbens, Leanne" sort="Dibbens, Leanne" uniqKey="Dibbens L" first="Leanne" last="Dibbens">Leanne Dibbens</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Marini, Carla" sort="Marini, Carla" uniqKey="Marini C" first="Carla" last="Marini">Carla Marini</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence</s1><s2>Florence</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Suls, Arvid" sort="Suls, Arvid" uniqKey="Suls A" first="Arvid" last="Suls">Arvid Suls</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurogenetics Group, Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Chemaly, Nicole" sort="Chemaly, Nicole" uniqKey="Chemaly N" first="Nicole" last="Chemaly">Nicole Chemaly</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Inserm, U663, Paris, University Paris Descartes</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Hospital Necker - Enfants Malades, Department of Pediatric Neurology and Metabolism</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence</s1><s2>Florence</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Lona, Xenia" sort="Lona, Xenia" uniqKey="Lona X" first="Xenia" last="Lona">Xenia Lona</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</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"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurogenetics Group, Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Division of Neurology, University Hospital Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence</s1><s2>Florence</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Florence</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>IRCCS Stella Maris</s1><s2>Pisa</s2><s3>ITA</s3><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Inserm, U663, Paris, University Paris Descartes</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Hospital Necker - Enfants Malades, Department of Pediatric Neurology and Metabolism</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Florey Neuroscience Institutes</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">13-0080349</idno><date when="2013">2013</date><idno type="stanalyst">PASCAL 13-0080349 INIST</idno><idno type="RBID">Pascal:13-0080349</idno><idno type="wicri:Area/PascalFrancis/Corpus">000C54</idno><idno type="wicri:Area/PascalFrancis/Curation">005211</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000A19</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000A19</idno><idno type="wicri:doubleKey">0920-1211:2013:Young Ok Kim:do:mutations:in</idno><idno type="wicri:Area/Main/Merge">005193</idno><idno type="wicri:Area/Main/Curation">005015</idno><idno type="wicri:Area/Main/Exploration">005015</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Do mutations in SCN1B cause Dravet syndrome?</title><author><name sortKey="Young Ok Kim" sort="Young Ok Kim" uniqKey="Young Ok Kim" last="Young Ok Kim">YOUNG OK KIM</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Pediatrics, School of Medicine, Chonnam National University</s1><s2>Gwangju</s2><s3>KOR</s3><sZ>1 aut.</sZ></inist:fA14><country>Corée du Sud</country><wicri:noRegion>Gwangju</wicri:noRegion></affiliation></author><author><name sortKey="Dibbens, Leanne" sort="Dibbens, Leanne" uniqKey="Dibbens L" first="Leanne" last="Dibbens">Leanne Dibbens</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Marini, Carla" sort="Marini, Carla" uniqKey="Marini C" first="Carla" last="Marini">Carla Marini</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence</s1><s2>Florence</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Suls, Arvid" sort="Suls, Arvid" uniqKey="Suls A" first="Arvid" last="Suls">Arvid Suls</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurogenetics Group, Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation></author><author><name sortKey="Chemaly, Nicole" sort="Chemaly, Nicole" uniqKey="Chemaly N" first="Nicole" last="Chemaly">Nicole Chemaly</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Inserm, U663, Paris, University Paris Descartes</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Hospital Necker - Enfants Malades, Department of Pediatric Neurology and Metabolism</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence</s1><s2>Florence</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Florence</wicri:noRegion></affiliation></author><author><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Lona, Xenia" sort="Lona, Xenia" uniqKey="Lona X" first="Xenia" last="Lona">Xenia Lona</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</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"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurogenetics Group, Department of Molecular Genetics, VIB</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>4 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName><orgName type="university">Université d'Anvers</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Division of Neurology, University Hospital Antwerp</s1><s2>Antwerp</s2><s3>BEL</s3><sZ>10 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence</s1><s2>Florence</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Florence</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>IRCCS Stella Maris</s1><s2>Pisa</s2><s3>ITA</s3><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Inserm, U663, Paris, University Paris Descartes</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Hospital Necker - Enfants Malades, Department of Pediatric Neurology and Metabolism</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Florey Neuroscience Institutes</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital</s1><s2>Melbourne</s2><s3>AUS</s3><sZ>13 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author></analytic><series><title level="j" type="main">Epilepsy research</title><title level="j" type="abbreviated">Epilepsy res.</title><idno type="ISSN">0920-1211</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Epilepsy research</title><title level="j" type="abbreviated">Epilepsy res.</title><idno type="ISSN">0920-1211</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dravet syndrome</term><term>Encephalopathy</term><term>Epilepsy</term><term>Genetic determinism</term><term>Mutation</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome de Dravet</term><term>Epilepsie</term><term>Encéphalopathie</term><term>Pathologie du système nerveux</term><term>Déterminisme génétique</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Corée du Sud</li><li>France</li><li>Italie</li></country><region><li>Province d'Anvers</li><li>Région flamande</li><li>Toscane</li><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Anvers</li><li>Melbourne</li><li>Paris</li><li>Pise</li></settlement><orgName><li>Université d'Anvers</li><li>Université de Melbourne</li></orgName></list><tree><country name="Australie"><region name="Victoria (État)"><name sortKey="Young Ok Kim" sort="Young Ok Kim" uniqKey="Young Ok Kim" last="Young Ok Kim">YOUNG OK KIM</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="Dibbens, Leanne" sort="Dibbens, Leanne" uniqKey="Dibbens L" first="Leanne" last="Dibbens">Leanne Dibbens</name><name sortKey="Lona, Xenia" sort="Lona, Xenia" uniqKey="Lona X" first="Xenia" last="Lona">Xenia Lona</name><name sortKey="Mcmahon, Jacinta M" sort="Mcmahon, Jacinta M" uniqKey="Mcmahon J" first="Jacinta M." last="Mcmahon">Jacinta M. Mcmahon</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name></country><country name="Corée du Sud"><noRegion><name sortKey="Young Ok Kim" sort="Young Ok Kim" uniqKey="Young Ok Kim" last="Young Ok Kim">YOUNG OK KIM</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Marini, Carla" sort="Marini, Carla" uniqKey="Marini C" first="Carla" last="Marini">Carla Marini</name></noRegion><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name></country><country name="Belgique"><noRegion><name sortKey="Suls, Arvid" sort="Suls, Arvid" uniqKey="Suls A" first="Arvid" last="Suls">Arvid Suls</name></noRegion><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name><name sortKey="Suls, Arvid" sort="Suls, Arvid" uniqKey="Suls A" first="Arvid" last="Suls">Arvid Suls</name></country><country name="France"><region name="Île-de-France"><name sortKey="Chemaly, Nicole" sort="Chemaly, Nicole" uniqKey="Chemaly N" first="Nicole" last="Chemaly">Nicole Chemaly</name></region><name sortKey="Chemaly, Nicole" sort="Chemaly, Nicole" uniqKey="Chemaly N" first="Nicole" last="Chemaly">Nicole Chemaly</name><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005015 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005015 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:13-0080349
|texte= Do mutations in SCN1B cause Dravet syndrome?
}}
| This area was generated with Dilib version V0.6.33. |  |