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Article

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Journal of child neurology - 1 Apr 2022

Marco-Hernández Ana Victoria, Caro-Llopis Alfonso, Rubio Sánchez Pilar, Martínez Martínez Juan Carlos, Tomás Vila Miguel, Monfort Sandra, Martínez Francisco

Abstract excerpt

BACKGROUND: Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. METHODS: The study was carried out in 15 patients with SCN1A variants. The complete phenotype of the patients was evaluated. A systematic search was carried out in the scientific literature for those unexpected symptoms. RESULTS: Ten patients showed a missense variant, whereas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35072530
DOI: 10.1177/08830738211072694

Provenance

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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