5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy
نویسندگان
چکیده
منابع مشابه
Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency.
A girl aged 7.5 years with deficiency of 5,10-methylenetetrahydrofolate reductase was treated from early infancy with betaine, 3-6 g daily. She has slight microcephaly, moderate developmental delay, and impaired vision but there have been no obvious signs of folate deficiency. From 4 years of age, she developed an unexplained extreme increase in appetite and weight. Recent magnetic resonance im...
متن کاملBetaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.
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BACKGROUND Myoclonic status epilepticus (MSE) is rarely found in juvenile myoclonic epilepsy (JME) and its clinical features are not well described. We aimed to analyze MSE incidence, precipitating factors and clinical course by studying patients with JME from a large outpatient epilepsy clinic. METHODS We retrospectively screened all patients with JME treated at the Department of Neurology, ...
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The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed pho...
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2. In treatment of juvenile myoclonic epilepsy, the following is true except: a. Phenobarbitone is an effective treatment for generalized tonic seizures and myoclonic seizures b. Lamotrigine exaggerates myoclonic seizures in 50% of patients c. Levetiracetam has potent antimyoclonic effects d. Life long treatment with a proper AED is recommended for juvenile myoclonic epilepsy e. Pregabalin is a...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2014
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-28-9-3