SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

ABSTRACT:

Objective

To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort.

Methods

Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos.

Results

We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identifie

SUBMITTER: Vlaskamp DRM 

PROVIDER: S-EPMC6340340 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature