title: Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.
authors.affiliation: Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Mantuano
authors.forename: L
authors.initials: L
authors.lastname: Veneziano
authors.forename: M
authors.initials: M
authors.lastname: Spadaro
authors.forename: P
authors.initials: P
authors.lastname: Giunti
authors.forename: S
authors.initials: S
authors.lastname: Guida
authors.forename: M G
authors.initials: MG
authors.lastname: Leggio
authors.forename: L
authors.initials: L
authors.lastname: Verriello
authors.forename: N
authors.initials: N
authors.lastname: Wood
authors.forename: C
authors.initials: C
authors.lastname: Jodice
authors.forename: M
authors.initials: M
authors.lastname: Frontali
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D020864:Calcium Channels, N-Type / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017386:Sequence Homology, Amino Acid
chemical_list: D020864:Calcium Channels, N-Type