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[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

Lei Zheng Yan-Hong Wang Ya-Jun Lian Shi-Yue Mei Xue-Chao Zhao
Oct 2026 · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Vol 43 10, pp. 769-773 · 0 citations
Medicine

TL;DR

The c.4476+5G>T variant at an intronic site of the SCN1A gene probably underlay the pathogenesis of GEFS+ in this pedigree.

DOI PubMed Semantic Scholar
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