GABRG2
A mutation in the GABA(A) receptor subunit GABRG2 gene has been shown to cause a temperature-dependent intracellular trafficking defect.
Pathology
germline mutations in
- childhood absence epilepsy locus 2 (ECA2) (MIM.607681)
- generalized epilepsy with febrile seizures plus (GEFS+) (MIM.604233)
- familial febrile convulsions locus 8 (FEB8) (MIM.611277)
References
Berkovic SF, Petrou S. Febrile seizures: traffic slows in the heat. Trends Mol Med. 2006 Aug;12(8):343-4. PMID: #16829199#