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Keywords:

  • myoclonus-dystonia;
  • epilepsy;
  • ϵ-sarcoglycan;
  • inherited

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 ϵ-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[RIGHTWARDS ARROW]T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family. © 2004 Movement Disorder Society