Claim: Deficiencies in the GABRB3 gene, which codes protein isoforms or "protein variants", lead to many neurodevelopmental disorders and syndromes such as epilepsy and autism.
Evidence: Due to alternative splicing, the gene codes for many protein isoforms, all being subunits in the GABAA receptor, a ligand-gated ion channel. The Gabrb3 gene deficient mouse has been proposed as a model of autism spectrum disorder. These mice exhibit similar phenotypic symptoms such as non-selective attention, deficits in a variety of exploratory parameters, sociability, social novelty, nesting and lower rearing frequency as can be equated to characteristics found in patients diagnosed with autism spectrum disorder. GABRB3 deficiencies are implicated in many human neurodevelopmental disorders and syndromes such as Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism.