Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.

ABSTRACT:

Background

Mutations in the SLC2A1 gene cause glucose transporter type 1 deficiency syndrome (Glut1DS). This study aimed to investigate the clinical and molecular genetics characteristics of Chinese patients with Glut1DS.

Methods

The clinical data of patients with Glut1DS were analyzed retrospectively. SLC2A1 mutation analysis was performed using Sanger sequencing or next-generation sequencing (NGS). Multiplex ligation-dependent probe amplification (MLPA) was conducted in patients with negative results.

Results

A total of 90 patients were diagnosed with Glut1DS, including 63 (70%) classic type and 27 (30%) non-classic type. Seizures occurred in 69 patients (77%), movement disorders were observed in 58 (68%), and episodic eye-head movements were noted in 17 (19%). Cere

SUBMITTER: Zhang MJ 

PROVIDER: S-EPMC11958367 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature