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VICART , Savine

Last name: VICART

First name: Savine

2018 (v1)

Journal article

Metadata-only

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Kokunai, Yosuke Dalle, Carine Vicart, Savine

Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Nav1.4 — the skeletal muscle voltage-gated sodium channel. Familial hypoPP results from a leaking gating pore...

Uploaded on: December 4, 2022
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