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

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

31 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
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/01.WNL.0000066020.99191.76

Cite this

@article{c62644f856644d6c8b9c0d72c5f6b6e0,

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 (US)",

volume = "60",

pages = "1988--1990",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "12",

}

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 - http://www.scopus.com/inward/record.url?scp=10744233866&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10744233866&partnerID=8YFLogxK

U2 - 10.1212/01.WNL.0000066020.99191.76

DO - 10.1212/01.WNL.0000066020.99191.76

M3 - Article

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

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this