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. [

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

DI ROSA, GABRIELLA;MESSINA, Sonia;PUSTORINO GIUSEPPIN, OLIVIA;TORTORELLA, Gaetano
2011

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. [
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/1918067
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