Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Iris M de LangeWout WeuringRuben van 't SlotBoudewijn GunningAnja C M SonsmaMark McCormackCarolien de KovelLisette J J M van GemertFlip MulderMarjan J A van KempenNine V A M KnoersEva H BrilstraBobby P C KoelemanPublished in: Molecular genetics & genomic medicine (2019)
The nonsignificant observed trends in our study warrant replication studies in larger cohorts to explore the potential modifying role of these common SCN1A promoter-haplotypes.