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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… Click to show full 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 presence of rare and more common variants in epilepsy‐related genes as potential modifiers of SCN1A‐related disease severity.
Keywords:
epilepsy;
epilepsy syndromes;
related epilepsy;
modifier genes;
genes scn1a;
scn1a related
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!