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. Tijssen

doi:https://doi.org/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. Tijssen

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Abstract

A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-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
Pages (from-to)	1988-1990
Journal	Neurology
Volume	60
Issue number	12
DOIs	https://doi.org/10.1212/01.WNL.0000066020.99191.76
Publication status	Published - 2003

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https://doi.org/10.1212/01.WNL.0000066020.99191.76

Cite this

@article{0eebd620b97b4eef8853ffda1567d8b4,

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 epsilon-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 Tijssen, {M. A. J.}",

year = "2003",

doi = "https://doi.org/10.1212/01.WNL.0000066020.99191.76",

language = "English",

volume = "60",

pages = "1988--1990",

journal = "Neurology",

issn = "0028-3878",

publisher = "American Academy of Neurology",

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TY - JOUR

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 - Tijssen, M. A. J.

PY - 2003

Y1 - 2003

N2 - A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-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 epsilon-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

U2 - https://doi.org/10.1212/01.WNL.0000066020.99191.76

DO - https://doi.org/10.1212/01.WNL.0000066020.99191.76

M3 - Article

C2 - 12821748

SN - 0028-3878

VL - 60

SP - 1988

EP - 1990

JO - Neurology

JF - Neurology

IS - 12

ER -