Associated Papers
Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.
Razmeh S et al.
Journal of Neurology, 2025
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.
Akter H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
Specific characteristics and current diagnostic and treatment modalities performance of super refractory status epilepticus in children: A comparative study.
Briassoulis G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2022
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I et al.
Epilepsy & Behavior Reports, 2021
Lafora disease.
Turnbull J et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
Raththagala M et al.
Molecular Cell, 2015
Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.
Liu Y et al.
Human Molecular Genetics, 2009
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Ganesh S et al.
Journal of Human Genetics, 2006
A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.
Wang J et al.
The Journal of Biological Chemistry, 2002
Advances in the genetics of progressive myoclonus epilepsy.
Delgado-Escueta AV et al.
American Journal of Medical Genetics, 2001
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
Gómez-Garre P et al.
European Journal of Human Genetics : Ejhg, 2000
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
Ganesh S et al.
Human Molecular Genetics, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Minassian BA et al.
Neurology, 2000