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 Citations (Scopus)

Abstract

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
JournalNeurology
Volume60
Issue number12
StatePublished - Jun 24 2003

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Dystonic Disorders
Epilepsy
Electroencephalography
Sarcoglycans
Genetic Heterogeneity
Genes
Mutation
Myoclonic dystonia

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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

Hereditary myoclonus-dystonia associated with epilepsy. / 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.

In: Neurology, Vol. 60, No. 12, 24.06.2003, p. 1988-1990.

Research output: Contribution to journalArticle

Foncke, EMJ, Klein, C, Koelman, JHTM, Kramer, PL, Schilling, K, Müller, B, Garrels, J, De Carvalho Aguiar, P, Liu, L, De Froe, A, Speelman, JD, Ozelius, LJ & De Koning-Tijssen, MAJ 2003, 'Hereditary myoclonus-dystonia associated with epilepsy', Neurology, vol. 60, no. 12, pp. 1988-1990.
Foncke EMJ, Klein C, Koelman JHTM, Kramer PL, Schilling K, Müller B et al. Hereditary myoclonus-dystonia associated with epilepsy. Neurology. 2003 Jun 24;60(12):1988-1990.
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. / Hereditary myoclonus-dystonia associated with epilepsy. In: Neurology. 2003 ; Vol. 60, No. 12. pp. 1988-1990.
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