![]() 5 The KD produces ketone bodies that diffuse across the blood-brain barrier. 5 Mutations of SLC2A1 cause GLUT1 encephalopathy, an early-childhood metabolic disorder with intractable epilepsy, cognitive impairment, and movement disorders. Glucose transporter 1 is the main glucose transporter across the blood-brain barrier. The KD is also the treatment of choice for individuals with glucose transporter 1 (GLUT1) encephalopathy due to mutations in the gene solute carrier family 2 (facilitated glucose transporter), member 1 ( SLC2A1), which encodes GLUT1. Approximately 50% of patients with MAE improve on the ketogenic diet (KD). Early development is usually normal however, outcome varies from an encephalopathic course to normal intellect. 1, 2 The electroencephalogram (EEG) shows generalized spike- or polyspike-wave activity at more than 2.5 Hz without generalized paroxysmal fast activity or focal spikes. Myoclonic-astatic epilepsy (MAE), classified among the generalized epilepsies, is characterized by generalized seizures that begin in early to midchildhood, typically with a stormy onset including myoclonic, myoclonic-atonic, absence, and generalized tonic-clonic seizures and nonconvulsive status epilepticus. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder. Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood.Ĭonclusions Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Multiplex ligation-dependent probe amplification analysis did not reveal any genomic rearrangements in 75 of the remaining cases 5 could not be tested. Results Four of 84 probands with MAE had a mutation of SLC2A1 on sequencing. ![]() Main Outcome Measure Any SLC2A1 mutations. Any identified mutations were then screened in controls. Patients Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. ![]() Setting Ambulatory and hospitalized care. Objective To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency.
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