Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

doi:10.1371/journal.pgen.1000381

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Article

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

PLoS genetics - 1 Feb 2009

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, Leguern Eric

Abstract excerpt

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...

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PMID: 19214208
DOI: 10.1371/journal.pgen.1000381
PMCID: PMC2633044

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PCDH19

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