Ontology highlight
ABSTRACT:
SUBMITTER: Depienne C
PROVIDER: S-EPMC2633044 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Depienne Christel C Bouteiller Delphine D Keren Boris B Cheuret Emmanuel E Poirier Karine K Trouillard Oriane O Benyahia Baya B Quelin Chloé C Carpentier Wassila W Julia Sophie S Afenjar Alexandra A Gautier Agnès A Rivier François F Meyer Sophie S Berquin Patrick P Hélias Marie M Py Isabelle I Rivera Serge S Bahi-Buisson Nadia N Gourfinkel-An Isabelle I Cazeneuve Cécile C Ruberg Merle M Brice Alexis A Nabbout Rima R Leguern Eric E
PLoS genetics 20090213 2
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 SCN1A-negative patients, 41 probands were screened for micro-rearrangements with Illumina high-density SNP microarrays. A hemizygous deletion on chro ...[more]