Epileptic phenotypes in children with early onset mitochondrial diseases
Acta Neurologica Scandinavica May 22, 2019
Matricardi S, et al. - In this investigation involving 129 patients, researchers identified the prevalence of epilepsy in early onset mitochondrial diseases (MDs) patients and assessed the epileptic phenotypes and associated characteristics. For this analysis, they involved children affected by MD with onset during the first year of life. The most detected epileptic syndromes were epileptic encephalopathy (EE) with spasms and EE with prominent focal seizures. In a multisystemic clinical presentation, epilepsy in children with early onset MD can be a presenting or a prominent symptom. Factors associated with epilepsy could determine the worst outcome of seizure, leading to a more severe burden of the disease.
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