De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Dana JaberCyril GitiauxSophie BlessonFlorent MarguetDavid BuardMaritzaida Varela SalgadoAnna KaminskaJulien SaadaCatherine Fallet-BiancoJelena MartinovicAnnie LaquerriereJudith Melki

Published in: Journal of medical genetics (2020)

We show for the first time that SCN1A variants are responsible for early-onset motor defect leading to AMC indicating a critical role of SCN1A in prenatal motor development and broadening the phenotypic spectrum of variants in SCN1A.

Keyphrases

early onset
late onset
copy number
pregnant women
gene expression
drug induced