GLUT1 Deficiency Syndrome

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by childhood epilepsy that is refractory to pharmacologic treatment. Patients may also develop psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals and resolving after ingestion of glucose rich meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. (Source: Orphanet)

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