Article detail · 2015
Three Patients With Lafora Disease Different Clinical Presentations and a Novel Mutation
YÖKSİS
OpenAlex
SJR Q2
JCR Q3
Citations 6
Percentile 71.6%
FWCI 0.69
- Year
- 2015
- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- YÖKSİS venue Journal of Child Neurology
- Catalog match (ISSN) Journal of Child Neurology
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
English (OpenAlex)
Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy. Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene. Mutations in the NHLRC1 gene are described as having a more benign clinical course and a later age of death compared with EPM2A mutations. We report 2 genetic mutations and clinical courses of Lafora disease in 3 adolescents with homozygote NHLRC1 mutation and novel homozygous EPM2A mutation.
Topics
- Glycogen Storage Diseases and Myoclonus
- Neurological disorders and treatments
- Autoimmune Neurological Disorders and Treatments
Primary topic Glycogen Storage Diseases and Myoclonus