GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

ABSTRACT:

Background

GNAO1-related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medications, and to review published epilepsy phenotypes in GNAO1.

Methods

An online survey was distributed to caregivers of individuals diagnosed with GNAO1 pathogenic variants, and a literature review was conducted.

Results

Fifteen respondents completed the survey with the median age of 39 months, including a novel variant p.Q52P. Nine had epilepsy - six had onset in the first week of life, three in the first year of life - but two reported no ongoing se

SUBMITTER: JoJo Yang QZ 

PROVIDER: S-EPMC9841045 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature