title: The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.
abstract: Intellectual disability, autism spectrum disorder, and epilepsy are prime examples of neurodevelopmental disorders that collectively affect a significant percentage of the world population. Recent technological breakthroughs allowed the elucidation of the genetic causes of many of these disorders. As neurodevelopmental disorders are genetically heterogeneous, the development of rational therapy is extremely challenging. Fortunately, many causative genes are interconnected and cluster in specific cellular pathways. Targeting a common node in such a network would allow us to interfere with a series of related neurodevelopmental disorders at once. Here, we argue that the GABAergic system is disturbed in many neurodevelopmental disorders, including fragile X syndrome, Rett syndrome, and Dravet syndrome, and is a key candidate target for therapeutic intervention. Many drugs that modulate the GABAergic system have already been tested in animal models with encouraging outcomes and are readily available for clinical trials.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium.
authors.forename: Sien
authors.initials: S
authors.lastname: Braat
authors.affiliation: Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium. Electronic address: frank.kooy@uantwerpen.be.
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D000818:Animals; D002659:Child Development Disorders, Pervasive / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D002658:Developmental Disabilities / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D016503:Drug Delivery Systems / Q000639:trends*; D005600:Fragile X Syndrome / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D018757:GABA Modulators / Q000008:administration & dosage / Q000378:metabolism*; D006801:Humans; D009422:Nervous System Diseases / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D011963:Receptors, GABA-A / Q000235:genetics / Q000378:metabolism*; D015518:Rett Syndrome / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism
chemical_list: D018757:GABA Modulators; D011963:Receptors, GABA-A