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

doi:10.1684/epd.2011.0461

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	259-262
Number of pages	4
Journal	Epileptic Disorders
Volume	13
Issue number	3
DOIs	https://doi.org/10.1684/epd.2011.0461
Publication status	Published - Sept 2011

Keywords

Dystroglycanopathy
Epilepsy
Myoclonus

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1684/epd.2011.0461

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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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AU - Bertini, Enrico

AU - Pustorino, Giuseppina

AU - Spanò, Maria

AU - Tortorella, Gaetano

PY - 2011/9

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AB - 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.

KW - Dystroglycanopathy

KW - Epilepsy

KW - Myoclonus

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

Abstract

Keywords

ASJC Scopus subject areas

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