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

Gabriella Di Rosa, Sonia Messina, Adele D'Amico, Enrico Bertini, Giuseppina Pustorino, Maria Spanò, Gaetano Tortorella

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)259-262
Number of pages4
JournalEpileptic Disorders
Volume13
Issue number3
DOIs
Publication statusPublished - Sep 2011

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Keywords

  • Dystroglycanopathy
  • Epilepsy
  • Myoclonus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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