Developmental and Epileptic Encephalopathy 19 - CISMeF
Developmental and Epileptic Encephalopathy 19NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 19;
NCIt synonyms : EIEE19; DEE19; Early Infantile Epileptic Encephalopathy 19;
NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy, caused by
mutation(s) in the GABRA1 gene, encoding gamma-aminobutyric acid receptor subunit
alpha-1.;