Lafora disease is a rare and fatal disease characterized by seizures, progressive cognitive and behavioral deterioration, as well as cerebellar dysfunction. Currently, there is no efficacious treatment that will control the seizures and improve the cognitive decline in this disease. We report a patient with Lafora disease who experienced a dramatic amelioration in her seizure frequency as well as the associated neurological and cognitive dysfunction following initiation of treatment with perampanel administered as monotherapy. Perampanel is the first potentially efficacious treatment for Lafora disease. We discuss a potential mechanism for the efficacy of perampanel in this disease. (C) 2014 The Authors. Published by Elsevier Inc.
机构:
VA Greater Los Angeles Healthcare Syst, Epilepsy Genet Genom Labs, Comprehens Epilepsy Program, Los Angeles, CA 90073 USAVA Greater Los Angeles Healthcare Syst, Epilepsy Genet Genom Labs, Comprehens Epilepsy Program, Los Angeles, CA 90073 USA
机构:
VA Greater Los Angeles Healthcare Syst, Epilepsy Genet Genom Labs, Comprehens Epilepsy Program, Los Angeles, CA 90073 USAVA Greater Los Angeles Healthcare Syst, Epilepsy Genet Genom Labs, Comprehens Epilepsy Program, Los Angeles, CA 90073 USA