Modifier genes in SCN1A‐related epilepsy syndromes

Modifier genes in SCN1A‐related epilepsy syndromes

Abstract 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 mo...

Full description

Bibliographic Details
Main Authors: Iris M. de Lange, Flip Mulder, Ruben van 'tSlot, Anja C. M. Sonsma, Marjan J. A. vanKempen, Isaac J. Nijman, Robert F. Ernst, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Dravet
epilepsy
GEFS+
modifier genes
phenotypic variability
SCN1A
Online Access:https://doi.org/10.1002/mgg3.1103

Internet

https://doi.org/10.1002/mgg3.1103

Similar Items