Article
SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization.
Channels (Austin, Tex.) - 1 Dec 2025
Ghovanloo Mohammad-Reza, Gershome Cynthia, van der Lee Robin, Drogemoller Britt, Zhang Linhua, Matthews Allison, Blydt-Hansen Ingrid, Nikkel Sarah M, Demos Michelle, Wasserman Wyeth W, Ross Colin J, van Karnebeek Clara D, Ruben Peter C
Abstract excerpt
SCN3A, the gene encoding the voltage-gated sodium channel, Nav1.3, plays a critical role in early neuronal development. Although traditionally considered a neonatal channel, emerging evidence has linked SCN3A mutations to a spectrum of neurodevelopmental disorders. Here, we report two clinical cases involving rare SCN3A variants: one with a de novo p.L209P mutation and another with compound heterozygous p.N52H...
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