Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
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.
O'Riordan
Sean
S
Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland. seanorior1@eircom.net
Ozelius
Laurie J
LJ
de Carvalho Aguiar
Patricia
P
Hutchinson
Michael
M
King
Mary
M
Lynch
Tim
T
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
D018389:Codon, Nonsense; D049031:Sarcoglycans