![]() 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. Shared Decision Making and Communication.Scientific Discovery and the Future of Medicine.Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience.Challenges in Clinical Electrocardiography.In this article, the author reviews the recent findings on the GlyT-1 as a potential therapeutic target of schizophrenia. A recent double blind phase II study demonstrated that the novel GlyT-1 inhibitor RG1678 has a robust and clinically meaningful effect in patients with schizophrenia. Currently, a number of pharmaceutical companies have been developing novel and selective GlyT-1 inhibitors for the treatment of schizophrenia. Some clinical studies have demonstrated that the GlyT-1 inhibitor sarcosine (N-methylglycine) shows antipsychotic activity in patients with schizophrenia. One means of enhancing NMDA receptor neurotransmission is to increase the availability of the obligatory co-agonist glycine at modulatory site on the NMDA receptors through the inhibition of glycine transporter-1 (GlyT-1) on glial cells. The glycine modulatory site on NMDA receptor complex is the one of the most attractive therapeutic targets for schizophrenia. The hypofunction hypothesis of glutamatergic neurotransmission via N-methyl-D-aspartate (NMDA) receptors in the pathophysiology of schizophrenia suggests that increasing NMDA receptor function via pharmacological manipulation could provide a new therapeutic strategy for schizophrenia.
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