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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196470/
https://www.ncbi.nlm.nih.gov/pubmed/32032478
http://dx.doi.org/10.1002/mgg3.1103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196470/
https://www.ncbi.nlm.nih.gov/pubmed/32032478
http://dx.doi.org/10.1002/mgg3.1103

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