De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

ConclusionsOur results indicate thatCACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene.CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate.
Source: Molecular Autism - Category: Molecular Biology Source Type: research