benign adult familial myoclonic epilepsy
MIM.601068 and MIM.607876
Benign adult familial myoclonic epilepsy is an autosomal-dominant epileptic syndrome with high penetrance, characterized by adult onset of myoclonus of the limbs, rare and generalized tonic-clonic seizures, and a benign course.
This epileptic syndrome was linked to chromosome 8q (benign adult familial myoclonic epilepsy type 1) and 2p (benign adult familial myoclonic epilepsy type 2).
This epileptic syndrome has been traditionally classified as a potential channelopathy, although no ion-channel mutation has yet been found.