Hereditary myoclonus-dystonia associated with epilepsy

被引：22

作者：

Foncke, EMJ

Klein, C

Koelman, JHTM

Kramer, PL

Schilling, K

Müller, B

Garrels, J

Aguiar, PD

Liu, L

de Froe, A

Speelman, JD

Ozelius, LJ

Tijssen, MAJ

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DD Amsterdam, Netherlands

[2] Epilepsy Ctr de Klokkenberg, Breda, Netherlands

[3] Med Univ Lubeck, Dept Neurol, Lubeck, Germany

[4] Med Univ Lubeck, Dept Human Genet, Lubeck, Germany

[5] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA

[6] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA

来源：

NEUROLOGY | 2003年 / 60卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000066020.99191.76

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1988 / 1990

页数：3

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