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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625088/
https://ncbi.nlm.nih.gov/pubmed/31144463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.727
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