Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

doi:10.1212/WNL.0b013e3182684683

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Article

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

Neurology - 4 Sept 2012

Lossin Christoph, Nam Tai-Seung, Shahangian Shahab, Rogawski Michael A, Choi Seok-Yong, Kim Myeong-Kyu, Sunwoo Il-Nam

Abstract excerpt

OBJECTIVE: To electrophysiologically characterize the Na(v)1.4 mutant N440K found in a Korean family with a syndrome combining symptoms of paramyotonia congenita, hyperkalemic periodic paralysis, and potassium-aggravated myotonia. METHODS: We characterized transiently expressed wild-type and mutant Na(v)1.4 using whole-cell voltage-clamp analysis. RESULTS: N440K produced a significant depolarizing shift in the...

Topics

Adolescent
Adult
Electromyography
Female
Humans
Ion Channel Gating
Male
Membrane Potentials
Middle Aged
Muscle, Skeletal
Mutation
Myotonic Disorders
NAV1.4 Voltage-Gated Sodium Channel
Paralysis, Hyperkalemic Periodic

Source

Open in PubMed

Identifiers

PMID: 22914841
DOI: 10.1212/WNL.0b013e3182684683

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