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^*

^*Corresponding author for this work

25 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 language	English
Journal	Neurology
Volume	60
Issue number	12
Pages (from-to)	1988-1990
Number of pages	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.WNL.0000066020.99191.76
Publication status	Published - 24.06.2003

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1212/01.WNL.0000066020.99191.76

Cite this

@article{1a05aa0593424a9a9077293fa6a4810c,

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",

issn = "0028-3878",

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

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

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this