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Inherited myoclonus‐dystonia and epilepsy: Further evidence of an association?
Author(s) -
O'Riordan Sean,
Ozelius Laurie J.,
De Carvalho Aguiar Patricia,
Hutchinson Michael,
King Mary,
Lynch Tim
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20224
Subject(s) - myoclonus , dystonia , epilepsy , nonsense mutation , medicine , electroencephalography , neurological disorder , mutation , psychology , neuroscience , genetics , central nervous system disease , biology , gene , missense mutation
Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus‐dystonia (M‐D). We report on the second M‐D family in which several clinically affected ϵ‐sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C→T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family. © 2004 Movement Disorder Society