Article
Mitochondrial disease and epilepsy.
Developmental medicine and child neurology - 1 May 2012
Rahman Shamima
Abstract excerpt
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 all 37...
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