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Article

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Oct 2007

Rusconi Raffaella, Scalmani Paolo, Cassulini Rita Restano, Giunti Giulia, Gambardella Antonio, Franceschetti Silvana, Annesi Grazia, Wanke Enzo, Mantegazza Massimo

Abstract excerpt

Familial epilepsies are often caused by mutations of voltage-gated Na+ channels, but correlation genotype-phenotype is not yet clear. In particular, the cause of phenotypic variability observed in some epileptic families is unclear. We studied Na(v)1.1 (SCN1A) Na+ channel alpha subunit M1841T mutation, identified in a family characterized by a particularly large phenotypic spectrum. The mutant is a loss of...

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Identifiers

PMID: 17928445
DOI: 10.1523/JNEUROSCI.3515-07.2007
PMCID: PMC6672853

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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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