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

doi:10.1212/01.WNL.0000066020.99191.76

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

Neurology

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

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 language	English (US)
Pages (from-to)	1988-1990
Number of pages	3
Journal	Neurology
Volume	60
Issue number	12
DOIs	https://doi.org/10.1212/01.WNL.0000066020.99191.76
State	Published - Jun 24 2003

ASJC Scopus subject areas

Clinical Neurology

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10.1212/01.WNL.0000066020.99191.76

Cite this

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title = "Hereditary myoclonus-dystonia associated with epilepsy",

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.",

author = "Foncke, {E. M.J.} and C. Klein and Koelman, {J. H.T.M.} and Kramer, {P. L.} and K. Schilling and B. M{\"u}ller and J. Garrels and {De Carvalho Aguiar}, P. and L. Liu and {De Froe}, A. and Speelman, {J. D.} and Ozelius, {L. J.} and {De Koning-Tijssen}, {M. A.J.}",

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T1 - Hereditary myoclonus-dystonia associated with epilepsy

AU - Foncke, E. M.J.

AU - Klein, C.

AU - Koelman, J. H.T.M.

AU - Kramer, P. L.

AU - Schilling, K.

AU - Müller, B.

AU - Garrels, J.

AU - De Carvalho Aguiar, P.

AU - Liu, L.

AU - De Froe, A.

AU - Speelman, J. D.

AU - Ozelius, L. J.

AU - De Koning-Tijssen, M. A.J.

PY - 2003/6/24

Y1 - 2003/6/24

N2 - 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.

AB - 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.

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SP - 1988

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JO - Neurology

JF - Neurology

IS - 12

ER -

Hereditary myoclonus-dystonia associated with epilepsy

Abstract

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