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Delgado‐Escueta, Antonio V.

0000-0002-1581-6999

A5026317578 | I161318765

Mayo Clinic

University of California, Los Angeles

Citations 1

A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments

Child Neurology Open | October 5, 2022 | Volume: 9 | Issue: No issue available | Pages: No page available

10.1177/2329048x221126361 | PMID 36211619

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.