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Article

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions.

Genetica - 1 Sept 2004

Meisler Miriam H, Plummer Nicholas W, Burgess Daniel L, Buchner David A, Sprunger Leslie K

Abstract excerpt

Allelic mutations of Scn8a in the mouse have revealed the range of neurological disorders that can result from alternations of one neuronal sodium channel. Null mutations produce the most severe phenotype, with motor neuron failure leading to paralysis and juvenile lethality. Two less severe mutations cause ataxia, tremor, muscle weakness, and dystonia. The electrophysiological effects have been studied at the...

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Identifiers

PMID: 15619959
DOI: 10.1007/s10709-004-1441-9

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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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