The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence From a Congenital Case With Compound Heterozygous SCN10A Mutations

Apart from the most prominent symptoms in Autism spectrum disorder (ASD), namely deficits social interaction, communication and repetitive behavior, patients often show abnormal sensory reactivity to environmental stimuli. Especially potentially painful stimuli are reported be experienced a different way compared healthy persons. In our present study, we identified an ASD patient carrying compound heterozygous mutations voltage-gated sodium channel (VGSC) Na v 1.8, which is preferentially expressed neurons. We both mutations, p.I1511M p.R512 ? , heterologous expression system investigated their biophysical properties using patch-clamp recordings. The results of these experiments reveal that mutation renders non-functional, while showed only minor effects on channel’s function. Behavioral 1.8 loss-of-function mouse model additionally revealed may play role autism-like symptomatology. Our as protein involved pathophysiology therefore offer new insights into genetic basis this disease.