Clinical Characterization of Epilepsy in Children With Angelman Syndrome.

ABSTRACT:

Background

Epilepsy is highly prevalent in children with Angelman syndrome (AS), and its detailed characterization and relationship to the genotype (deletion vs nondeletion) is important both for medical practice and for clinical trial design.

Methods and materials

We retrospectively analyzed the main clinical features of epilepsy in 265 children with AS who were enrolled in the AS Natural History Study, a multicenter, observational study conducted at six centers in the United States. Participants were prospectively followed up and classified by genotype.

Results

Epilepsy was reported in a greater proportion of individuals with a deletion than a nondeletion genotype (171 of 187 [91%] vs. 48 of 78 [61%], P < 0.001). Compared with participants with a nondeletion genotyp

SUBMITTER: Cassater D 

PROVIDER: S-EPMC8500934 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature