GABRD
MIM.137163 1p36.3
The GABRD gene encodes a subunit of the ligand-gated chloride channel for gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the mammalian brain.
Pathology
GABRD germline mutations in:
- generalized epilepsy with febrile seizures plus (GEFS+) (MIM.604233)
- juvenile myoclonic epilepsy (JME) (MIM.606904)
GABRD-R220H substitution in the N-terminal extracellular domain of the protein associated with different forms of epilepsy:
8.3% of patients with idiopathic generalized epilepsy (IGE) (MIM.600669)
3.1% with GEFS+ (MIM.604233)
4.2% of control individuals.