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SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience.

Indian pediatrics - 15 Aug 2023

Maruthi Goske, Dhayalan Pavithra, Kumaran Priyanka, Soundraoandiyan Jagatheesh, Gambhir Prakash

Abstract excerpt

OBJECTIVE: To study prevalence of SCN1A gene mutations in complex seizure disorders. METHODS: Retrospective laboratory based study on samples sent for molecular diagnosis in complex seizure disorders. Exome sequencing was performed. Phenotype- genotype correlation was done for patients showing variants in SCN1A gene. RESULTS: 364 samples were evaluated; of which, 54% were of children below 5 years of age. SCN1A...

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PMID: 37209046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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