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Article

A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

Human mutation - 1 Jul 2009

Rusconi Raffaella, Combi Romina, Cestèle Sandrine, Grioni Daniele, Franceschetti Silvana, Dalprà Leda, Mantegazza Massimo

Abstract excerpt

Mutations of voltage-gated Na(+) channels are the most common known cause of genetically determined epilepsy; Na(v)1.1 (SCN1A) is the most frequent target. They can cause both mild and severe forms, also in patients harboring the same mutation. We have recently characterized in a family with extreme phenotypes the first epileptogenic folding-defective Na(+) channel mutant (Na(v)1.1-M1841T), whose loss of function...

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PMID: 19402159
DOI: 10.1002/humu.21041

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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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