Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

摘要: Objective To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. Design Genetic analysis. Setting Ambulatory and hospitalized care. Patients Eighty-four unrelated probands MAE were phenotyped SLC2A1 was sequenced analyzed by multiplex ligation-dependent probe amplification. Any identified mutations then screened in controls. Main Outcome Measure mutations. Results Four 84 had mutation on sequencing. Multiplex amplification analysis did not reveal any genomic rearrangements 75 the remaining cases; 5 could be tested. Two also developed paroxysmal exertional dyskinesia childhood. Conclusions Five percent our mutations, suggesting that should tested for GLUT1 Diagnosis deficiency is strong indication early use ketogenic diet, which may substantially improve outcome this severe disorder.