Classic Glucose Transporter Type 1 Deficiency Syndrome

Alias:
Encephalopathy Due to Glut1 Deficiency
Classic Glut1 Deficiency Syndrome
Classic Glut1-Ds
De Vivo Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Classic Glucose Transporter Type 1 Deficiency Syndrome, also known as encephalopathy due to glut1 deficiency, is related to glucose transporter type 1 deficiency syndrome and glut1 deficiency syndrome 1. An important gene associated with Classic Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include eye and brain, and related phenotypes are seizure and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
1
8
23

Medical Symptom

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No data available

Gene & Mutation

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References Literature

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