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Epileptic Disorders

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A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features Volume 13, issue 3, Septembre 2011

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  • A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

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Authors
Unit of Infantile Neuropsychiatry, Department of Medical and Surgical Pediatrics, University Hospital of Messina, Messina, Department of Pediatric Neurology, Catholic University, Rome, Department of Neurosciences, Psychiatry and Anaestesiology, University of Messina, Messina, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Dept. Neuroscience, Bambino Gesu’ Children's Research Hospital, Rome, U.O.C. di Neuropsichiatria Infantile, A.O.U. “Ospedali Riuniti”, Foggia, Italy

We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. [Published with video sequences]