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Article

Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.

Epilepsy research - 1 Oct 2021

Zhou Xijing, Xu Haiqing, Cai Xiuqu, Tang Bin, Liu Xiaorong, Shi Yiwu, Zheng Jinou, Liao Weiping, Yu Lu

Abstract excerpt

OBJECTIVE: Intronic variants of the SCN1A gene are detected in patients with epilepsy with febrile seizures (EFS), which includes a series of phenotypes with different severities. However, the pathogenicity of intronic variants and their genotype-phenotype correlation remain under characterized. The purpose of this study was to determine the changes in mRNA splicing caused by SCN1A intronic variants associated...

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Identifiers

PMID: 34293681
DOI: 10.1016/j.eplepsyres.2021.106711

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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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