Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy

Background Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various tissues. LD typically manifests during adolesc...

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Veröffentlicht in:	BMC neurology Jg. 25; H. 1; S. 230 - 6
Hauptverfasser:	Naderian, Ramtin, Vafaeian, Farzane, Hoseini, Seyyed Mohamad, Sanami, Samira
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 29.05.2025 BioMed Central Ltd Springer Nature B.V BMC
Schlagworte:	Adolescence Adolescent Ataxia Biopsy Case Report Case studies Child development Cognitive ability Convulsions & seizures Dementia Diagnosis Disorders of consciousness: understanding the spectrum to focus treatment EEG Electroencephalography Epilepsy EPM2A mutation Exocrine glands Genes Genetic counseling Genetic disorders Genetic screening Genetic testing Genotype & phenotype Glycogen Humans Lafora diseas Lafora Disease - complications Lafora Disease - diagnosis Lafora Disease - genetics Lafora Disease - physiopathology Magnetic resonance imaging Male Medicine Medicine & Public Health Metformin Mutation Myoclonic Epilepsies, Progressive - diagnosis Myoclonic Epilepsies, Progressive - genetics Myoclonic epilepsy Neurochemistry Neurological decline Neurology Neurosurgery Paralysis Patients Phenobarbital Progressive myoclonic epilepsy Protein Tyrosine Phosphatases, Non-Receptor - genetics Quality of life Rare diseases Refractory epilepsy Seizures Symptom management Ubiquitin-Protein Ligases - genetics Zonisamide Iran Refractory epilepsy Neurological decline Lafora diseas Progressive myoclonic epilepsy EPM2A mutation
ISSN:	1471-2377, 1471-2377
Online-Zugang:	Volltext
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