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

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, and the...

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Detalles Bibliográficos
Autores principales:	de Lange, Iris M., Weuring, Wout, van ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., McCormack, Mark, de Kovel, Carolien, van Gemert, Lisette J. J. M., Mulder, Flip, van Kempen, Marjan J. A., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625088/ https://www.ncbi.nlm.nih.gov/pubmed/31144463 http://dx.doi.org/10.1002/mgg3.727

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