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Updated: Aug 6, 2026

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
09:57

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Published on: September 20, 2024

Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A

Hana Ahmed1, Mohammad Alsumaili1, Muhammad Saeed1

  • 1Department of Pediatrics, Armed forces hospital, southern region, Khamis Mushit, Saudia Arabia.

Journal of Child Neurology
|July 24, 2026
PubMed

Insights

Glucose transporter 1 (GLUT1) deficiency syndrome, a rare metabolic disorder, causes drug-resistant epilepsy. Early diagnosis via genetic testing and ketogenic diet treatment significantly improve outcomes for affected children.

Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • Glucose transporter 1 (GLUT1) deficiency syndrome is a rare genetic disorder affecting glucose transport across the blood-brain barrier.
  • Classic symptoms include early-onset, drug-resistant epilepsy (particularly absence seizures), cognitive delays, and movement disorders.

Purpose of the Study:

  • To highlight the importance of genetic evaluation in cases of refractory absence epilepsy.
  • To present a case demonstrating the efficacy of the ketogenic diet in treating GLUT1 deficiency syndrome.

Main Methods:

  • Whole exome sequencing was performed to identify the genetic cause of epilepsy.
  • The patient was treated with a ketogenic diet.

Main Results:

  • A heterozygous mutation in the SLC2A1 gene confirmed a diagnosis of autosomal dominant GLUT1 deficiency syndrome type 2.
  • The patient experienced significant clinical improvement after initiating the ketogenic diet.

Conclusions:

  • Refractory absence epilepsy warrants genetic investigation for potential underlying conditions like GLUT1 deficiency.
  • The ketogenic diet is a crucial therapeutic intervention for managing GLUT1 deficiency syndrome.

Keywords:
SLC2A1absence epilepsyglucose transporter 1 deficiency syndromeketogenic dietrefractory seizures

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