Early onset epileptic encephalopathies associated with GABRA5 and GABRA1 mutations


  • GABRA5 was identified as a causative gene for early onset epileptic encephalopathy and expands the mutant GABRA1 phenotypic spectrum.

  • Impairment of GABAergic function may be caused by multiple mutations and variants in common structural GABAA receptor ‘hot spots’.

Why this matters ?

  • This study highlighted new molecular mechanisms that may lead to the neurological dysfunction observed in those with GABRA5 and GABRA1 mutations, and supports the increasing evidence that GABAergic neurotransmission defects contribute to early onset epileptic encephalopathy phenotypes.