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 کاملAutism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia
Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objec...
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Our clinical experience at Kennedy Krieger Institute over the last 15 years has shown that a deficiency of mitochondrial complex I is a common cause of regressive autism. Although some clinical characteristics of mitochondrial disease, such as mild gross motor delay and hypotonia, are sometimes manifest, the abnormalities typically are subtle and not appreciated until there is loss of language ...
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ژورنال
عنوان ژورنال: Epilepsy Journal
سال: 2015
ISSN: 2472-0895
DOI: 10.4172/2472-0895.1000e102