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GOSSELIN-BADAROUDINE , Pascal

Last name: GOSSELIN-BADAROUDINE

First name: Pascal

2018 (v1)

Journal article

Metadata-only

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Poulin, Hugo Gosselin-Badaroudine, Pascal Vicart, Savine

Mutations in Na V 1.4, the skeletal muscle voltage-gated Na + channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic substitution found in two unrelated...

Uploaded on: February 28, 2023