Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the encoded protein NaV1.2, a sodium channel important for action potential initiation and propagation in developing excitatory cortical neurons.
bioRxiv(2018): 366781.
https://www.biorxiv.org/content/biorxiv/early/2018/07/10/366781.full.pdf