Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel

Simple item page
dc.contributor.authorDirani, Maya M.
dc.contributor.authorNasreddine, Wassim M.
dc.contributor.authorAbdulla, Fatima
dc.contributor.authorBeydoun, Ahmad A.
dc.contributor.departmentPediatrics and Adolescent Medicine
dc.contributor.departmentNeurology
dc.contributor.departmentDivision of Pediatric Neurology
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T12:10:32Z
dc.date.available2025-01-24T12:10:32Z
dc.date.issued2014
dc.description.abstractLafora 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.
dc.identifier.doihttps://doi.org/10.1016/j.ebcr.2014.09.003
dc.identifier.eid2-s2.0-84907980835
dc.identifier.urihttp://hdl.handle.net/10938/32320
dc.language.isoen
dc.publisherElsevier Inc.
dc.relation.ispartofEpilepsy and Behavior Case Reports
dc.sourceScopus
dc.subjectAnticonvulsants
dc.subjectLafora disease
dc.subjectPerampanel
dc.subjectProgressive myoclonic epilepsy
dc.subjectClonazepam
dc.subjectEtiracetam
dc.subjectLamotrigine
dc.subjectTopiramate
dc.subjectAdolescent
dc.subjectArticle
dc.subjectAtaxia
dc.subjectCase report
dc.subjectCognitive defect
dc.subjectDisease control
dc.subjectDisease severity
dc.subjectDose response
dc.subjectDrug dose titration
dc.subjectDrug efficacy
dc.subjectDrug safety
dc.subjectDrug withdrawal
dc.subjectDysarthria
dc.subjectElectroencephalography
dc.subjectFemale
dc.subjectGene
dc.subjectGene mutation
dc.subjectGenetic screening
dc.subjectHuman
dc.subjectHuman tissue
dc.subjectMedical history
dc.subjectMyoclonus epilepsy
dc.subjectNhlrc1 gene
dc.subjectSkin biopsy
dc.subjectTonic clonic seizure
dc.subjectUnspecified side effect
dc.subjectVisual hallucination
dc.titleSeizure control and improvement of neurological dysfunction in Lafora disease with perampanel
dc.typeArticle

Files

Original bundle

Now showing 1 - 1 of 1
Thumbnail Image
Name:
2014-10457.pdf
Size:
192.74 KB
Format:
Adobe Portable Document Format
Download

Collections

Pediatrics and Adolescent Medicine
Neurology