Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E.
Depienne C, et al. Among authors: ruberg m.
PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13.
PLoS Genet. 2009.
PMID: 19214208
Free PMC article.