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.
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Special oil may tame seizures in rare brain energy disorder
Disease control CompletedThis phase 2 trial tested triheptanoin oil in 20 people with GLUT1 deficiency syndrome, a rare genetic condition that prevents glucose from properly fueling the brain. The goal was to see if this special oil could reduce the number of seizures and abnormal movement episodes. Part…
Phase: PHASE2 • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Disease control
Last updated Jun 27, 2026 07:53 UTC
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Routine EEGs may hold hidden clues to childhood epilepsy — a new analysis method is put to the test
Diagnosis CompletedThis study is testing whether a computer tool called BioEP can detect signs of seizure susceptibility in standard EEG recordings from children with epilepsy. Researchers will analyze past EEGs from 530 children aged 2 to 18 who already have an epilepsy diagnosis. The goal is to s…
Sponsor: Neuronostics Ltd • Aim: Diagnosis
Last updated Aug 01, 2026 00:00 UTC