Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes

Abstract Background Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression, leading to a decreased residual function of Nav1.1,...

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Main Authors: Iris M. deLange, Wout Weuring, Ruben van‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien deKovel, Lisette J. J. M. vanGemert, Flip Mulder, Marjan J. A. vanKempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Format: Artigo
Language:Inglês
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Dravet
GEFS+
promoter
SCN1A
variable expression
Online Access:https://doi.org/10.1002/mgg3.727
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