Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder

We describe the phenotype–genotype study of a boy with ABPE with follow-up from ages 5 to 13years showing acquired oromotor and, later, a specific lexical semantic and pervasive developmental disorder. Exome sequencing identified variants in SCN9A, CPA6, and SCNM1. A direct role of the epilepsy in the pathogenesis of the oromotor and neurocognitive deficits is apparent.
Source: Epilepsy and Behavior Case Reports - Category: Neurology Source Type: research