Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome...
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
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Author / Creator
Depienne, Christel , Bouteiller, Delphine , Keren, Boris , Cheuret, Emmanuel , Poirier, Karine , Trouillard, Oriane , Benyahia, Baya , Quelin, Chloé , Carpentier, Wassila , Julia, Sophie , Afenjar, Alexandra , Gautier, Agnès , Rivier, François , Meyer, Sophie , Berquin, Patrick , Hélias, Marie , Py, Isabelle , Rivera, Serge , Bahi-Buisson, Nadia , Gourfinkel-An, Isabelle , Cazeneuve, Cécile , Ruberg, Merle , Brice, Alexis , Nabbout, Rima and LeGuern, Eric
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the...
Alternative Titles
Full title
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Authors, Artists and Contributors
Author / Creator
Bouteiller, Delphine
Keren, Boris
Cheuret, Emmanuel
Poirier, Karine
Trouillard, Oriane
Benyahia, Baya
Quelin, Chloé
Carpentier, Wassila
Julia, Sophie
Afenjar, Alexandra
Gautier, Agnès
Rivier, François
Meyer, Sophie
Berquin, Patrick
Hélias, Marie
Py, Isabelle
Rivera, Serge
Bahi-Buisson, Nadia
Gourfinkel-An, Isabelle
Cazeneuve, Cécile
Ruberg, Merle
Brice, Alexis
Nabbout, Rima
LeGuern, Eric
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1313543136
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313543136
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1000381
