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Article

Evaluation of burden of SCN1A pathogenicity in North Indian children with Dravet syndrome.

Seizure - 1 Nov 2024

Negi Sandeep, Bhatia Prateek, Kaur Anupriya, Das Jhumki, Bhatia Tanvi, Aggarwal Ritu, Sankhyan Naveen, Singhi Pratibha, Sahu Jitendra Kumar

Abstract excerpt

BACKGROUND: Dravet syndrome is an infantile-onset developmental and epileptic encephalopathy with limited data on the frequency of SCN1A in Indian children. The study aimed to identify and characterize the burden of SCN1A pathogenic variants associated with the Dravet syndrome phenotype through genetic testing in the North Indian population. METHOD: In this prospective, cross-sectional study from March 2015 to...

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PMID: 39299018
DOI: 10.1016/j.seizure.2024.09.004

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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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