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Episode 58 - Mitochondrial Diseases and the Nervous System
Neurology Exam Prep Podcast
Exploring Outwork Syndrome and Mitochondrial Epilepsy
Exploring the autosomal recessive outwork syndrome caused by a PULG1 gene mutation leading to mitochondrial DNA depletion and associated with mitochondrial epilepsy. It details the symptoms, diagnostic clues like EEG patterns and MRI findings, and the critical caution against using valproic acid in treatment.
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