The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.

ABSTRACT:

Introduction

SLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorders. This phenotypic description is mainly based on knowledge from the pediatric population.

Method

Here, we sought to describe patients with SLC6A1 variants and age above 18 years through the ascertainment of published and unpublished patients. Unpublished patients were ascertained through international collaborations, while previously published patients were collected through a literature search.

Results

A total of 15 adult patients with SLC6A1 v

SUBMITTER: Johannesen KM 

PROVIDER: S-EPMC10472133 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature