GABRB3, epilepsy, and neurodevelopment

GABRB3 is important to neurodevelopment, and appears to be influenced by non-Mendelian and epigenetic mechanisms. GABRB3 abnormalities have been implicated in a variety of neurodevelopmental conditions presenting epilepsy phenotypes, including childhood absence epilepsy, Angelman syndrome, and autism. Gabrb3 disruption in mice also results in seizure phenotypes, ataxia, and sensory and learning disorders. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgad-o-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at www.ncbi.nlm.nih.gov/books).