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Intractable seizures halted with experimental treatment for rare pediatric 'Pretzel syndrome'

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With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language. The study, by researchers including experts from the Perelman School of Medicine at the University of Pennsylvania, appears in the journal Science Translational Medicine.

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