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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 heterozygo...

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Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25569746-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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