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Article

SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity.

Gene - 10 Jan 2025

Ji Jingjing, Zhou Xijing, Lu Yanting, Shen Lang, Li Lixia, Chen Zirong, Shi Yiwu, Liao Weiping, Yu Lu

Abstract excerpt

High-throughput sequencing has identified numerous intronic variants in the SCN1A gene in epilepsy patients. Abnormal mRNA splicing caused by these variants can lead to significant phenotypic differences, but the mechanisms of epileptogenicity and phenotypic differences remain unknown. Two variants, c.4853-1 G>C and c.4853-25 T>A, were identified in intron 25 of SCN1A, which were associated with severe Dravet...

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PMID: 39173978
DOI: 10.1016/j.gene.2024.148876

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