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Article

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Apr 2010

Herini Elisabeth Siti, Gunadi, van Kempen Marjan J A, Yusoff Surini, Sutaryo, Sunartini, Patria Suryono Yudha, Matsuo Masafumi, Lindhout Dick, Nishio Hisahide

Abstract excerpt

BACKGROUND: Severe myoclonic epilepsy in infancy (SMEI) and borderline SMEI (SMEB) are caused by a mutation in SCN1A, which encodes a voltage-gated sodium channel alpha1-subunit protein. Although many mutations in SCN1A have been associated with clinical features of SMEI or SMEB from different ethnic groups, there have been no such reports from the South-East Asian populations so far. METHODS: Patients 1 and 2...

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PMID: 19563458
DOI: 10.1111/j.1442-200X.2009.02916.x

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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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