title: Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
abstract: Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus-dystonia (M-D). We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C-->T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family.
authors.affiliation: Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland. seanorior1@eircom.net
authors.forename: Sean
authors.initials: S
authors.lastname: O'Riordan
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: Patricia
authors.initials: P
authors.lastname: de Carvalho Aguiar
authors.forename: Michael
authors.initials: M
authors.lastname: Hutchinson
authors.forename: Mary
authors.initials: M
authors.lastname: King
authors.forename: Tim
authors.initials: T
authors.lastname: Lynch
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002849:Chromatography, Gas; D018389:Codon, Nonsense / Q000235:genetics; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D049031:Sarcoglycans