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A Case Report of GLUT1 Deficiency Syndrome in Infants with Refractory Seizures

Background: GLUT1 deficiency syndrome (GLUT1 DS) is a rare, autosomal dominant disorder caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein GLUT1. This transporter is essential for glucose transfer from the bloodstream into the brain. GLUT1 DS typically presents in...

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Hlavní autoři: Janvi Soni, Garvit Godawat, Priyanshu Saraswat, Pallavi Jain, Aditi Vora, Nidhi Shah
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Medknow Publications 2026-01-01
Edice:Hail Journal of Health Sciences
Témata:
glut1 deficiency syndrome
hypoglycorrhachia
ketogenic diet
movement disorder
refractory epilepsy
On-line přístup:https://doi.org/10.4103/hjhs.hjhs_6_25
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