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KCNC1 ‐Related Progressive Myoclonus Epilepsy: A Case Report

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Résumé fourni par la source

-related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy and novel pharmacological approaches.

Institutions

Shahid Beheshti University of Medical Sciences Isfahan University of Medical Sciences

Sujets associés

Glycogen Storage Diseases and MyoclonusNeurological disorders and treatmentsGenetics and Neurodevelopmental Disorders

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