Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Marios KambourisJulien ThevenonAriane SoldatosAllison CoxJoshi StephenTawfeg Ben-OmranYasser Al-SarrajHala BoulosWilliam BoneJames C Mullikinnull nullAlice Masurel-PauletJudith St-OngeYannis DuffordCorrine ChantegretChristel Thauvin-RobinetJamil Al-AlamiLaurence FaivreJean Baptiste RiviereWilliam A GahlAlexander G BassukMay Christine V MalicdanHatem El-ShantiPublished in: Annals of clinical and translational neurology (2016)
SCN10A is a member of the voltage-gated sodium channel (VGSC) gene family. Sodium channels are responsible for the instigation and proliferation of action potentials in central and peripheral nervous systems. Heterozygous mutations in VGSC genes cause a wide range of epileptic and peripheral nervous system disorders. This report presents autosomal recessive mutations in SCN10A that may be linked to epilepsy-related phenotypes, Lennox-Gastaut syndrome, infantile spasms, and Autism Spectrum Disorder.