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Article

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

Annals of neurology - 1 Sept 2001

Bendahhou S, Cummins T R, Griggs R C, Fu Y H, Ptácek L J

Abstract excerpt

A novel mutation in a family with hypokalemic periodic paralysis is described. The mutation R672S is located in the voltage sensor segment S4 of domain II in the SCN4A gene encoding the human skeletal muscle voltage-gated sodium channel. Functional expression of the R672S channels in human embryonic kidney 293 cells revealed a small but significant hyperpolarizing shift in the steady-state fast inactivation, and...

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Identifiers

PMID: 11558801
DOI: 10.1002/ana.1144

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.PMID 11558801Read ↗

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Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.Semantic proximity Read ↗

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.Semantic proximity Read ↗

Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.Semantic proximity Read ↗

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.Semantic proximity Read ↗

A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationSemantic proximity Read ↗

NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.Semantic proximity Read ↗

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