Epilepsy Course and Developmental Trajectories in STXBP1-DEE.

ABSTRACT:

Background and objectives

Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopment and epilepsy.

Methods

Retrospective standardized clinical data were collected through international collaboration. A composite neurodevelopmental score system compared the developmental trajectories in STXBP1-DEE.

Results

Forty-eight patients with de novo STXBP1 variants and a history of epilepsy were included (age range at the time of the study: 10 months to 35 years, mean 8.5 years). At the time of inclusion, 65% of individuals (

SUBMITTER: Balagura G 

PROVIDER: S-EPMC9157582 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature