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Article

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Neurology - 12 Jan 2016

Habbout Karima, Poulin Hugo, Rivier François, Giuliano Serena, Sternberg Damien, Fontaine Bertrand, Eymard Bruno, Morales Raul Juntas, Echenne Bernard, King Louise, Hanna Michael G, Männikkö Roope, Chahine Mohamed, Nicole Sophie, Bendahhou Said

Abstract excerpt

OBJECTIVE: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient. METHODS: The proband was evaluated clinically and neurophysiologically over a period of 15 years. Genetic testing of candidate genes was performed. Functional characterization of the candidate mutation was done in mammalian cell background using whole cell patch...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Neuromuscular Junction

Share to Paralyses, Familial Periodic

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Source

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Identifiers

PMID: 26659129
DOI: 10.1212/WNL.0000000000002264
PMCID: PMC4731685

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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