Authors : Arif Maulana; Ade Saifan Surya; Nurul Raihana; Aldan Rahmadnur

Volume/Issue : Volume 8 - 2023, Issue 10 - October

Google Scholar : https://tinyurl.com/47rpdwnc

Scribd : https://tinyurl.com/2hc2m8at

DOI : https://doi.org/10.5281/zenodo.8434749

Abstract : Childhood-onset epilepsy is a complex neurological condition with several seizure types and causes. Glucose Transporter Type 1 Deficiency (Glut1 Deficiency) is a rare but important cause of refractory epilepsy in children. Objective: This review synthesizes the literature on Glucose Transporter Type 1 Deficiency (Glut1 Deficiency) and childhood-onset epilepsy. The study examines the pathophysiological underpinnings of Glut1 Deficiency, concentrating on Glut1's crucial involvement in glucose transport across the blood-brain barrier. Glut1 dysfunction causes cerebral hypoglycorrhachia, which impairs brain energy metabolism and causes seizures. The varied neurological symptoms of Glut1 Deficiency in childhood-onset epilepsy, including seizures, developmental delay, mobility abnormalities, and cognitive impairment, are examined. This review covers the molecular genetics of Glut1 Deficiency and emphasizes the need of genetic testing and early diagnosis for patient management and tailored treatment. Discussions include diagnostic problems, differential diagnoses, and the use of sophisticated neuroimaging in Glut1 Deficiency examination. This publication covers Glut1 Deficiency in childhood-onset epilepsy's clinical presentation, genetic basis, diagnostic problems, and treatment options. It illuminates this rare and difficult disorder, helping clinicians and researchers find better treatments for affected patients

Keywords : Glut1 Deficiency, Childhood-Onset Epilepsy, Glucose Transporter Type 1, Seizures, Neurological Disorders.