title: 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].
authors.affiliation: Department of Medical and Surgical Pediatrics, University Hospital of Messina, Messina, Italy. gdirosa@unime.it
authors.forename: Gabriella
authors.initials: G
authors.lastname: Di Rosa
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Pustorino
authors.forename: Maria
authors.initials: M
authors.lastname: Spanò
authors.forename: Gaetano
authors.initials: G
authors.lastname: Tortorella
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D004351:Drug Resistance; D049030:Dystroglycans / Q000097:blood*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000209:etiology; D004827:Epilepsy / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006031:Glycosylation; D006801:Humans; D008831:Microcephaly / Q000150:complications; D009136:Muscular Dystrophies / Q000150:complications* / Q000503:physiopathology; D012640:Seizures / Q000209:etiology / Q000503:physiopathology; D014741:Video Recording
chemical_list: D000927:Anticonvulsants; D049030:Dystroglycans