title: Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.
authors.affiliation: Consultorio de Neurogenética. Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía. Facultad de Medicina, UBA. Buenos Aires, Argentina; IBCN "Eduardo de Robertis", Facultad de Medicina, UBA-CONICET. Buenos Aires, Argentina.
authors.forename: M
authors.initials: M
authors.lastname: Córdoba
authors.forename: S
authors.initials: S
authors.lastname: Rodriguez
authors.forename: D
authors.initials: D
authors.lastname: González Morón
authors.forename: N
authors.initials: N
authors.lastname: Medina
authors.forename: M A
authors.initials: MA
authors.lastname: Kauffman
mesh_terms: D000328:Adult; D003241:Consanguinity; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D018092:Kainic Acid Receptors / Q000235:genetics*; D000097806:GluK2 Kainate Receptor
chemical_list: D018092:Kainic Acid Receptors; D000097806:GluK2 Kainate Receptor