A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family

Journal of the Neurological Sciences

Volumn 210, Issue 1-2, 2003, Pages 91-93

  Matsuyama, Zenjiro ^a   Murase, Masahiko ^a   Shimizu, Hirotaka ^a   Aoki, Yoko ^a   Hayashi, Misato ^a   Hozumi, Isao ^a   Inuzuka, Takashi ^a  

^a GIFU UNIVERSITY   (Japan)

Author keywords

A Japanese family; Acetazolamide; Episodic ataxia type 2 (EA 2); Gene analysis

Indexed keywords

ACETAZOLAMIDE;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DYSARTHRIA; FEMALE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; JAPAN; MALE; MOTOR DYSFUNCTION; NAUSEA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; TREATMENT OUTCOME;

EID: 0037962882     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(03)00008-X     Document Type: Article

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