Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel
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Elsevier Inc.
Abstract
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. © 2014.
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Keywords
Anticonvulsants, Lafora disease, Perampanel, Progressive myoclonic epilepsy, Clonazepam, Etiracetam, Lamotrigine, Topiramate, Adolescent, Article, Ataxia, Case report, Cognitive defect, Disease control, Disease severity, Dose response, Drug dose titration, Drug efficacy, Drug safety, Drug withdrawal, Dysarthria, Electroencephalography, Female, Gene, Gene mutation, Genetic screening, Human, Human tissue, Medical history, Myoclonus epilepsy, Nhlrc1 gene, Skin biopsy, Tonic clonic seizure, Unspecified side effect, Visual hallucination