title: NMDA receptor subunit mutations in neurodevelopmental disorders.
abstract: N-Methyl-D-aspartate receptors (NMDARs) are glutamate-gated cation channels that are expressed throughout the brain and play essential role in brain functioning. Diversity of the subunits and of their spatio-temporal expression imparts distinct functional properties for the particular NMDAR in a particular brain region and developmental stage. Mutations in NMDARs may have pathological consequences and actually lead to various neurological disorders. Recent human genetic studies as highlighted here show the existence of multiple alterations in NMDARs subunits genes in several usual and common brain diseases, such as intellectual disability, autism spectrum disorders (ASD), or epilepsy. Relation of a particular mutation to the corresponding alteration of NMDARs function may provide an avenue to the targeted therapy for the pharmacological treatment of the disorders.
authors.affiliation: INSERM UMR_S901, Marseille, France; Mediterranean Institute of Neurobiology (INMED), Marseille, France; Aix-Marseille University, Marseille, France. Electronic address: nail.burnashev@inserm.fr.
authors.forename: Nail
authors.initials: N
authors.lastname: Burnashev
authors.affiliation: INSERM UMR_S901, Marseille, France; Mediterranean Institute of Neurobiology (INMED), Marseille, France; Aix-Marseille University, Marseille, France; French Epilepsy, Language and Development (EPILAND) Network, France. Electronic address: pierre.szepetowski@inserm.fr.
authors.forename: Pierre
authors.initials: P
authors.lastname: Szepetowski
mesh_terms: D001921:Brain / Q000502:physiology / Q000503:physiopathology; D001927:Brain Diseases / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D001523:Mental Disorders / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D058990:Molecular Targeted Therapy; D009154:Mutation; D009422:Nervous System Diseases / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*
chemical_list: D016194:Receptors, N-Methyl-D-Aspartate