title: [Lafora's disease presenting with progressive myoclonus epilepsy].
abstract: Lafora's disease is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive cognitive impairment are present. We report the case of a 14-year-old boy who suffered from several occipital seizures and two generalised seizures. The diagnosis of Lafora's disease was made six years after these inaugural symptoms because of occurrence of myoclonus, aggravation of the epilepsy with paharmacoresistance and psychic deterioration. Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum. Mutations of these genes are responsible for intracytoplasmic polyglucosan inclusions called Lafora bodies and pathognomonic of the disease.
authors.affiliation: Service de neurologie, CHU, Dijon. ybejot@yahoo.fr
authors.forename: Y
authors.initials: Y
authors.lastname: Béjot
authors.forename: M
authors.initials: M
authors.lastname: Lemesle-Martin
authors.forename: F
authors.initials: F
authors.lastname: Contégal
authors.forename: A
authors.initials: A
authors.lastname: Graule-Petot
authors.forename: C
authors.initials: C
authors.lastname: Thauvin
authors.forename: M-H
authors.initials: MH
authors.lastname: Aubriot-Lorton
authors.forename: T
authors.initials: T
authors.lastname: Moreau
authors.forename: M
authors.initials: M
authors.lastname: Giroud
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002352:Carrier Proteins / Q000378:metabolism; D004569:Electroencephalography; D006801:Humans; D020192:Lafora Disease / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D013545:Sweat Glands / Q000473:pathology; D044767:Ubiquitin-Protein Ligases
chemical_list: D000927:Anticonvulsants; D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human