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Article

Lack of sodium channel mutation in an Italian family with paramyotonia congenita.

Neurology - 22 Oct 1999

Sampaolo S, Puca A A, Nigro V, Cappa V, Sannino V, Sanges G, Bonavita V, Di Iorio G

Abstract excerpt

OBJECTIVE: To conduct the genotype-phenotype correlation in a family in which several individuals share clinical and electrophysiologic features of paramyotonia congenita (PC). BACKGROUND: PC, hyperkalemic periodic paralysis (HyperPP), and potassium-aggravated myotonias form the group of hereditary sodium channelopathies. Each of these disorders is associated with different point mutations in SCN4A, the gene...

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Identifiers

PMID: 10534266
DOI: 10.1212/wnl.53.7.1549

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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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