Jeavons syndrome in a family with GLUT1-Deficiency Syndrome

Glucose transporter-1 (GLUT1)/SLC2A1 is expressed at the highest levels in brain capillaries, astroglia, and erythrocytes. GLUT1-deficiency syndrome is a neurological disorder resulting primarily from aberrant glucose transport into the brain. Clinically, it is classified as GLUT1-deficiency syndrome with epilepsy and without epilepsy. The phenotypic spectrum of GLUT1- deficiency syndrome expanded over last two decades, encompassing a varying combination of epilepsies (absence, atypical absence, myoclonic, myoclonic-astatic, refractory generalized epilepsy, intractable infantile epilepsy etc.), movement disorders (paroxysmal exercise-induced dyskinesia, ataxia, etc.), and developmental delay.

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