generalised epilepsy with febrile seizures plus, type 3

generalised epilepsy with febrile seizures plus, type 3

A rare autosomal dominant condition (OMIM:611277) with incomplete penetrance and wide intrafamilial variability, characterised by febrile seizures persisting beyond age 6 and/or other seizure types (e.g.,generalised seizures precipitated by fever and partial seizures of variable severity).

Molecular pathology
Caused by defects of GABRG2, which encodes a subunit of a ligand-gated ionic channel that plays a key role in inhibiting neurotransmission.