title: De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
abstract: With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we investigated a patient with nonfamilial episodic vertigo and ataxia responsive to acetazolamide for similar mutations. Single-strand conformation polymorphism (SSCP) analysis of exon 23 identified an extra band in the patient that was not present in other relatives or in normal controls. Exon 23 of the patient showed a spontaneous C to T substitution at position 4410 resulting in an early stop codon. Patients with nonfamilial episodic ataxia may respond to acetazolamide and may have mutations in CACNA1A.
authors.affiliation: Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095-1769, USA.
authors.forename: Q
authors.initials: Q
authors.lastname: Yue
authors.forename: J C
authors.initials: JC
authors.lastname: Jen
authors.forename: M M
authors.initials: MM
authors.lastname: Thwe
authors.forename: S F
authors.initials: SF
authors.lastname: Nelson
authors.forename: R W
authors.initials: RW
authors.lastname: Baloh
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use*; D001259:Ataxia / Q000188:drug therapy / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D020864:Calcium Channels, N-Type
chemical_list: D000086:Acetazolamide; D000927:Anticonvulsants; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type