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

ABSTRACT:

Background

De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias.

Methods

Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database.

Results

We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile,

SUBMITTER: Royer-Bertrand B 

PROVIDER: S-EPMC8547031 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature