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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Original Articles
Acesso em linha: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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