Articles with "genes scn1a" as a keyword



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Modifier genes in SCN1A‐related epilepsy syndromes

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Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1103

Abstract: SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A‐related phenotypes. We investigate the… read more here.

Keywords: epilepsy; epilepsy syndromes; related epilepsy; modifier genes ... See more keywords