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

ConclusionThe nonsignificant observed trends in our study warrant replication studies in larger cohorts to explore the potential modifying role of these commonSCN1A promoter ‐haplotypes.

Source: Molecular Genetics & Genomic Medicine - May 28, 2019 Category: Genetics & Stem Cells Authors: Iris M. Lange, Wout Weuring, Ruben ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien Kovel, Lisette J. J. M. Gemert, Flip Mulder, Marjan J. A. Kempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman Tags: ORIGINAL ARTICLE Source Type: research