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Abstract Background: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission 1 (EMPF1) is a rare, severe mitochondrial disorder characterized by acute-onset refractory seizures that rapidly progress to status epilepticus and are associated with a poor prognosis. Conventional therapies, including antiepileptic drugs and the ketogenic diet, exhibit limited efficacy.
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