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

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].

DOI: 10.1684/epd.2011.0461

Cite this paper

@article{Rosa2011ANF, title={A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features.}, author={Gabriella Di Rosa and Sonia Messina and A. D'Amico and Enrico Silvio Bertini and Giuseppina Pustorino and Maria Span{\`o} and Gaetano Tortorella}, journal={Epileptic disorders : international epilepsy journal with videotape}, year={2011}, volume={13 3}, pages={259-62} }