Modifier genes in SCN1A‐related epilepsy syndromes

BACKGROUND: 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 commo...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: de Lange, Iris M., Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C. M., van Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196470/
https://ncbi.nlm.nih.gov/pubmed/32032478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1103
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