Article
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Brain : a journal of neurology - 1 Jan 2013
Peall Kathryn J, Smith Daniel J, Kurian Manju A, Wardle Mark, Waite Adrian J, Hedderly Tammy, Lin Jean-Pierre, Smith Martin, Whone Alan, Pall Hardev, White Cathy, Lux Andrew, Jardine Philip, Bajaj Narinder, Lynch Bryan, Kirov George, O'Riordan Sean, Samuel Michael, Lynch Timothy, King Mary D, Chinnery Patrick F, Warner Thomas T, Blake Derek J, Owen Michael J, Morris Huw R
Abstract excerpt
Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. Previous studies have suggested that patients with SGCE mutations may have an increased rate of psychiatric disorders. We established a cohort of patients with myoclonus...
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