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Article

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?

Epilepsy & behavior : E&B - 1 Feb 2015

Passamonti Claudia, Petrelli Cristina, Mei Davide, Foschi Nicoletta, Guerrini Renzo, Provinciali Leandro, Zamponi Nelia

Abstract excerpt

We report a three-generation, clinically heterogeneous family in which we identify a novel inherited splicing mutation of the SCN1A gene. Thirteen subjects were submitted to genetic analysis, clinical and instrumental examination, and neuropsychological assessment. In eight subjects, a heterozygous c.2946+5G>A donor splice site alteration in the SCN1A gene was found. Half of them had never had a seizure and...

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Identifiers

PMID: 25569746
DOI: 10.1016/j.yebeh.2014.11.009

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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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