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PedAM

Pediatric Disease Annotations & Medicines




Disease epilepsy
Phenotype C0751651|mitochondrial disorder
Sentences 2
PubMedID- 22459315 Results: syndromic mitochondrial disorders obligatory associated with epilepsy include alpers-huttenlocher-syndrome (ahs), ataxia neuropathy spectrum (ans), leigh-syndrome, melas-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (memsa) syndrome, and merrf-syndrome, occasionally, epilepsy is a phenotypic feature in iosca, kss, lhon, lbsl, or narp, all types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or west-syndrome was reported.
PubMedID- 25440829 Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder.

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