Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

GABRA3 encodes the alpha3 subunit of GABAA receptors. Niturad et al. identify six GABRA3 variants in familial and sporadic cases presenting with a range of epileptic seizure types, varying degrees of intellectual disability and developmental delay, and sometimes dysmorphic features or nystagmus. All detected variants cause a loss of function.