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Article

Genetic exploration of Dravet syndrome: two case report.

Journal of medical case reports - 23 Apr 2024

Triono Agung, Herini Elisabeth Siti, Gunadi

Abstract excerpt

BACKGROUND: Dravet syndrome is an infantile-onset developmental and epileptic encephalopathy (DEE) characterized by drug resistance, intractable seizures, and developmental comorbidities. This article focuses on manifestations in two Indonesian children with Javanese ethnicity who experienced Dravet syndrome with an SCN1A gene mutation, presenting genetic analysis findings using next-generation sequencing. CASE...

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Identifiers

PMID: 38649973
DOI: 10.1186/s13256-024-04514-2
PMCID: PMC11036636

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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