title: A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors.
abstract: Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and neurite outgrowth. Genetic advances have identified multiple molecules that participate in neural development, brain network connectivity, and synaptic function which are involved in the pathogenesis of autism and epilepsy. Mutations in GABA(A) receptor subunit have been frequently associated with epilepsy, autism, and other neuropsychiatric disorders. In this paper, we address the hypothesis that functional deficiency of GABAergic signaling is a potential common molecular mechanism underpinning the co-morbidity of autism and epilepsy.
authors.affiliation: Department of Neurology, Vanderbilt University Medical Center, 465 21st Ave, Nashville, TN 37232-8552, USA. jingqiong.kang@vanderbilt.edu
authors.forename: Jing-Qiong
authors.initials: JQ
authors.lastname: Kang
authors.forename: Gregory
authors.initials: G
authors.lastname: Barnes
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D001921:Brain / Q000254:growth & development / Q000503:physiopathology; D015897:Comorbidity; D004827:Epilepsy / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D011110:Polymorphism, Genetic; D011963:Receptors, GABA-A / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
chemical_list: C546273:GABRB3 protein, human; D011963:Receptors, GABA-A