The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.

ABSTRACT:

Objective

The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing approach.

Methods

Fifty-two adult patients (30 male, 22 female) with epilepsy, at least mild ID and no known genetic or acquired cause were included and phenotyped. Variants identified through exome sequencing were evaluated using ACMG criteria. Identified variants were compared with commercially available gene panels. Cluster analysis of two features, age at seizure onset and age at ascertainment of cognitive deficits, was performed.

Results

Median age was 27 years (range 20-57 years) with median seizure onset at 3 years and medi

SUBMITTER: von Brauchitsch S 

PROVIDER: S-EPMC10235558 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature