Polymicrogyria is Associated With Pathogenic Variants in PTEN.

ABSTRACT:

Objective

Congenital structural brain malformations have been described in patients with pathogenic phosphatase and tensin homologue (PTEN) variants, but the frequency of cortical malformations in patients with PTEN variants and their impact on clinical phenotype are not well understood. Our goal was to systematically characterize brain malformations in patients with PTEN variants and assess the relevance of their brain malformations to clinical presentation.

Methods

We systematically searched a local radiology database for patients with PTEN variants who had available brain magnetic resonance imaging (MRI). The MRI scans were reviewed systematically for cortical abnormalities. We reviewed electroencephalogram (EEG) data and evaluated the electronic medical record for eviden

SUBMITTER: Shao DD 

PROVIDER: S-EPMC7877488 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature