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Article

Hereditary myoclonus-dystonia associated with epilepsy.

Neurology - 24 Jun 2003

Foncke E M J, Klein C, Koelman J H T M, Kramer P L, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman J D, Ozelius L J, Tijssen M A J

Abstract excerpt

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...

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Source

Identifiers

PMID: 12821748
DOI: 10.1212/01.wnl.0000066020.99191.76

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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