A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.
Child Neurology Open（2022）
Abstract
Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.
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Key words
lafora disease,novel mutation,future treatments
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