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Article

Focal epilepsy due to de novo SCN1A mutation.

Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2021

Laur Domitille, Dozières-Puyravel Blandine, Iléa Adina, Nava Caroline, Delanoë Catherine, Nasser Hala, Le Guern Eric, Auvin Stéphane

Abstract excerpt

OBJECTIVE: Our aim was to identify patients with SCN1A-related epilepsy with a phenotype of pure focal epilepsy. METHODS: We conducted a retrospective study and a systematic review in Pubmed to identify patients with focal epilepsy associated with SCN1A pathogenic variants. RESULTS: We found three patients among 1,191 in our rare epilepsy database in 2017. The literature search from January 2000 to September 2019...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34106054
DOI: 10.1684/epd.2021.1285

Provenance

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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