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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

34 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Neurology
Jahrgang	60
Ausgabenummer	12
Seiten (von - bis)	1988-1990
Seitenumfang	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.WNL.0000066020.99191.76
Publikationsstatus	Veröffentlicht - 24.06.2003

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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.\}",

year = "2003",

month = jun,

day = "24",

doi = "10.1212/01.WNL.0000066020.99191.76",

language = "English",

volume = "60",

pages = "1988--1990",

journal = "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 - 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.

UR - https://www.scopus.com/pages/publications/10744233866

U2 - 10.1212/01.WNL.0000066020.99191.76

DO - 10.1212/01.WNL.0000066020.99191.76

M3 - Journal articles

C2 - 12821748

AN - SCOPUS:10744233866

SN - 0028-3878

VL - 60

SP - 1988

EP - 1990

JO - Neurology

JF - Neurology

IS - 12

ER -

Hereditary myoclonus-dystonia associated with epilepsy

Abstract

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