Delgado‐Escueta, Antonio V.
Mayo Clinic
University of California, Los Angeles
Citations 1
A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments
Nordli, Douglas R. , Rao, Chethan K. , Galán, Fernando , Galan, Fernando N , Nordli Iii, Douglas R , Delgado‐Escueta, Antonio V.
Child Neurology Open | October 5, 2022 | Volume: 9 | Issue: No issue available | Pages: No page available
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.