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Article

Milder phenotype with SCN1A truncation mutation other than SMEI.

Seizure - 1 Sept 2010

Yu Mei-Juan, Shi Yi-Wu, Gao Mei-Mei, Deng Wei-Yi, Liu Xiao-Rong, Chen Li, Long Yue-Sheng, Yi Yong-Hong, Liao Wei-Ping

Abstract excerpt

Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients. In this research we first identified two novel de novo truncation mutations (S662X and M145fx148) in two patients whose phenotypes were quite milder compared with SMEI patients. One patient was diagnosed as generalized epilepsy with febrile...

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Identifiers

PMID: 20630778
DOI: 10.1016/j.seizure.2010.06.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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