Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Abstract

Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.