GABA(A) receptor epilepsy mutations

Biochem Pharmacol. 2004 Oct 15;68(8):1497-506. doi: 10.1016/j.bcp.2004.07.029.

Abstract

Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative genes been identified. Here we review mutations in the GABA(A) receptor alpha1, gamma2, and delta subunits that have been associated with different IGE syndromes. These mutations affect GABA(A) receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures.

Publication types

  • Review

MeSH terms

  • Epilepsy / genetics*
  • Humans
  • Mutation
  • Protein Subunits / genetics*
  • Protein Subunits / metabolism
  • Receptors, GABA-A / genetics*
  • Receptors, GABA-A / metabolism

Substances

  • Protein Subunits
  • Receptors, GABA-A