Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a…

Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38%. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for…

Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…