title: Three patients with lafora disease: different clinical presentations and a novel mutation.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey hgpoyrazoglu@yahoo.com.
authors.forename: Hatice Gamze
authors.initials: HG
authors.lastname: Poyrazoğlu
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Emin
authors.initials: E
authors.lastname: Karaca
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Per
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Gümüs
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Canpolat
authors.affiliation: Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Canöz
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkınay
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors.forename: Sefer
authors.initials: S
authors.lastname: Kumandas
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D020192:Lafora Disease / Q000235:genetics*; D008297:Male; D009154:Mutation; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human
keywords: Lafora disease; genetic; progressive myoclonic epilepsy