title: A novel de novo pathogenic mutation in the CACNA1A gene.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Fujioka
authors.forename: Sruti
authors.initials: S
authors.lastname: Rayaprolu
authors.forename: Christina
authors.initials: C
authors.lastname: Sundal
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Broderick
authors.forename: William A
authors.initials: WA
authors.lastname: Langley
authors.forename: John
authors.initials: J
authors.lastname: Shoffner
authors.forename: Lauren C
authors.initials: LC
authors.lastname: Hyams
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.forename: Neill R
authors.initials: NR
authors.lastname: Graff-Radford
authors.forename: William
authors.initials: W
authors.lastname: Tatum
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type