A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.

Choquet, Karine

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. [electronic resource] - Neurogenetics Jul 2015 - 233-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-014-0436-7 doi


Adult
Ataxia--genetics
Codon, Nonsense
Female
Fibroblast Growth Factors--genetics
Frameshift Mutation
Humans
Male
Pedigree