Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes
Abstract Background Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression, leading to a decreased residual function of Nav1.1,...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-07-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.727 |