1. A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features.
- Author
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Di Rosa G, Messina S, D'Amico A, Bertini E, Pustorino G, Spanò M, and Tortorella G
- Subjects
- Adolescent, Anticonvulsants therapeutic use, Child, Drug Resistance, Epilepsies, Myoclonic etiology, Epilepsy drug therapy, Epilepsy physiopathology, Fatal Outcome, Female, Glycosylation, Humans, Microcephaly complications, Muscular Dystrophies physiopathology, Seizures etiology, Seizures physiopathology, Video Recording, Dystroglycans blood, Electroencephalography, Epilepsy complications, Muscular Dystrophies complications
- Abstract
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].
- Published
- 2011
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