A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family

Autor: Tuncer, Feyza N., Gormez, Zeliha, Calik, Mustafa, Altiokka Uzun, Gunes, Sagiroglu, Mahmut S., Yuceturk, Betul, Yuksel, Bayram, Baykan, Betul, Bebek, Nerses, Iscan, Akin, Ugur Iseri, Sibel A., Ozbek, Ugur
Zdroj: In Epilepsy Research July 2015 113:5-10
Databáze: ScienceDirect