Developmental and Epileptic Encephalopathy 11 - CISMeF
Developmental and Epileptic Encephalopathy 11NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 11;
NCIt synonyms : EIEE11; Early Infantile Epileptic Encephalopathy 11; DEE11;
NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s)
in the SCN2A gene, encoding sodium channel protein type 2 subunit alpha.;