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Article

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

Neurology - 23 Apr 2002

Bendahhou S, Cummins T R, Kula R W, Fu Y-H, Ptácek L J

Abstract excerpt

BACKGROUND: Mutations in the human skeletal muscle sodium channels are associated with hyperKPP, hypoKPP, paramyotonia congenita, and potassium-aggravated myotonia. This article describes the clinical manifestations of a patient with hyperKPP carrying a mutation (L689I) occurring in the linker DIIS4-S5 and its functional expression in a mammalian system. OBJECTIVE: To correlate the clinical manifestations of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11971097
DOI: 10.1212/wnl.58.8.1266

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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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