Preferred Label : Susceptibility to Idiopathic Generalized Epilepsy-10;
NCIt synonyms : EIG10;
NCIt definition : An autosomal dominant susceptibility to idiopathic generalized epilepsy-10, caused
by mutation(s) in the GABRD gene, encoding gamma-aminobutyric acid receptor subunit
delta. Mutations in the GABRD are also associated with susceptibility to idiopathic
generalized epilepsy-10, generalized epilepsy with febrile seizures plus, type 5,
and juvenile myoclonic epilepsy-7.;
Origin ID : C206526;
concept_is_in_subset