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Article

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Epilepsia - 1 Sept 2013

Lauxmann Stephan, Boutry-Kryza Nadia, Rivier Clotilde, Mueller Stephan, Hedrich Ulrike B S, Maljevic Snezana, Szepetowski Pierre, Lerche Holger, Lesca Gaetan

Abstract excerpt

Missense mutations in SCN2A, encoding the brain sodium channel NaV 1.2, have been described in benign familial neonatal-infantile seizures (BFNIS), a self-limiting disorder, whereas several SCN2A de novo nonsense mutations have been found in patients with more severe phenotypes including epileptic encephalopathy. We report a family with BFNIS originating from Madagascar. Onset extended from 3 to 9 months of age....

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PMID: 23758435
DOI: 10.1111/epi.12241

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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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