title: A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
authors.affiliation: Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR 72205, USA. Electronic address: dr.harshgupta@gmail.com.
authors.forename: Harsh V
authors.initials: HV
authors.lastname: Gupta
authors.affiliation: Division of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. Electronic address: jevengoecheabarrios@uams.edu.
authors.forename: Jaime
authors.initials: J
authors.lastname: Vengoechea
authors.affiliation: Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Little Rock, AR 72205, USA. Electronic address: ksahaya@uams.edu.
authors.forename: Kinshuk
authors.initials: K
authors.lastname: Sahaya
authors.affiliation: Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Little Rock, AR 72205, USA. Electronic address: tvirmani@uams.edu.
authors.forename: Tuhin
authors.initials: T
authors.lastname: Virmani
mesh_terms: D000328:Adult; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D059906:Neuroimaging; D020734:Parkinsonian Disorders / Q000235:genetics*; D017354:Point Mutation; D011596:Psychomotor Disorders / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*; D055815:Young Adult; D000093342:Prorenin Receptor
chemical_list: D022821:RNA Splice Sites; D011956:Receptors, Cell Surface; D025262:Vacuolar Proton-Translocating ATPases; C458319:ATP6AP2 protein, human; D000093342:Prorenin Receptor
keywords: ATP6AP2; Epilepsy; Intellectual disability; Parkinsonism