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Epileptic Disord. 2011 Sep;13(3):259-62. doi: 10.1684/epd.2011.0461.

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

Author information

1
Department of Medical and Surgical Pediatrics, University Hospital of Messina, Messina, Italy. gdirosa@unime.it

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].

PMID:
21914590
DOI:
10.1684/epd.2011.0461
[Indexed for MEDLINE]
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