Mitochondrial disease and epilepsy
نویسندگان
چکیده
منابع مشابه
Mitochondrial disease and epilepsy.
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in...
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متن کاملMitochondrial myopathy and myoclonic epilepsy.
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...
متن کاملEpilepsy in adults with mitochondrial disease: A cohort study
OBJECTIVE The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease. METHODS We prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne between January 1, 2005 and January 1, 2008. We then followed this cohort over a 7-year period, recordin...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2012
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2011.04214.x