Encephalopathy due to GLUT1 deficiency
MONDO:0011724Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
Also known as: De Vivo disease, GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome type 1, GLUT1-DS, Glucose Transporter Type 1 Deficiency Syndrome, encephalopathy due to GLUT1 deficiency, glucose transporter type 1 deficiency, glut-1 deficiency syndrome
12 clinical trials for this condition and its sub-types, 5 tagged with Encephalopathy due to GLUT1 deficiency itself.
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