Ontology highlight
ABSTRACT:
SUBMITTER: Hasan S
PROVIDER: S-EPMC5496848 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Hasan Sonia S Bove Cecilia C Silvestri Gabriella G Mantuano Elide E Modoni Anna A Veneziano Liana L Macchioni Lara L Hunter Therese T Hunter Gary G Pessia Mauro M D'Adamo Maria Cristina MC
Scientific reports 20170704 1
Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the substitution of the highly conserved phenylalanine 303 by valine (p.F303V). The contributions of F303 towards K<sup>+</sup> channel voltage gating are unclear a ...[more]