title: A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.
authors.affiliation: Department of Neurology, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Neurology, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Koh
authors.affiliation: Department of Neurology, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ichinose
authors.affiliation: Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yasumura
authors.affiliation: Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ohtsuka
authors.affiliation: Department of Neurology, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takiyama
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007473:Ion Channels; D008565:Membrane Proteins; D009154:Mutation; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D007473:Ion Channels; D008565:Membrane Proteins; C544681:NALCN protein, human; D015222:Sodium Channels