generalised epilepsy with febrile seizures plus, type 3
(redirected from GEFS+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.