In the context of previous reports of an association of de novo mutations in genes encoding different subunits of the GABA<sub>A</sub> receptor (GABRB1, GABRA1, GABRG2, GABRB3) with autosomal dominant epileptic disorders, we conclude that a de novo mutation in GABRA2 is likely to cause autosomal dominant EOEE accompanied by a movement disorder and vision impairment.