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KOKUNAI , Yosuke

Last name: KOKUNAI

First name: Yosuke

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