Hereditary myoclonus-dystonia associated with epilepsy

E. M.J. Foncke, C. Klein, J. H.T.M. Koelman, P. L. Kramer, K. Schilling, B. Müller, J. Garrels, P. De Carvalho Aguiar, L. Liu, A. De Froe, J. D. Speelman, L. J. Ozelius, M. A.J. De Koning-Tijssen

Research output: Contribution to journalArticle

28 Scopus citations


A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the ε-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.

Original languageEnglish (US)
Pages (from-to)1988-1990
Number of pages3
Issue number12
StatePublished - Jun 24 2003


ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Foncke, E. M. J., Klein, C., Koelman, J. H. T. M., Kramer, P. L., Schilling, K., Müller, B., Garrels, J., De Carvalho Aguiar, P., Liu, L., De Froe, A., Speelman, J. D., Ozelius, L. J., & De Koning-Tijssen, M. A. J. (2003). Hereditary myoclonus-dystonia associated with epilepsy. Neurology, 60(12), 1988-1990.