Epilepsy Research Today is a free monthly online journal that collates and summarizes the latest research about Epilepsy, including details on symptoms, causes, treatment, drugs, information.

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

O'Riordan S, Ozelius LJ, de Carvalho Aguiar P, Hutchinson M, King M, Lynch T

Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland. seanorior1@eircom.net

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 epsilon-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.

Published 3 November 2004 in Mov Disord, 19(12): 1456-9.
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