Publications:

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

Plos Genetics

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

Publication Date: 2009-02

Variant appearance in text: SCN1A: 1628T>C

PubMed Link: 19214208

Variant Present in the following documents:

• Main text

View BVdb publication page