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

Epileptic Disorders

Volumn 13, Issue 3, 2011, Pages 259-262

  Di Rosa, Gabriella ^a   Messina, Sonia ^b,c   D'Amico, Adele ^d   Bertini, Enrico ^d   Pustorino, Giuseppina ^e   Spanò, Maria ^a   Tortorella, Gaetano ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e AOU Ospedali Riuniti   (Italy)

Author keywords

Dystroglycanopathy; Epilepsy; Myoclonus

Indexed keywords

ALPHA DYSTROGLYCAN; ANTICONVULSIVE AGENT; DYSTROGLYCAN;

ADOLESCENT; ALPHA DYSTROGLYCANOPATHY; ASPIRATION PNEUMONIA; ATONIC SEIZURE; CASE REPORT; CAUSE OF DEATH; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CONFERENCE PAPER; DISEASE ASSOCIATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ELECTROENCEPHALOGRAM; FEMALE; HUMAN; MICROCEPHALY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SPEECH DISORDER; TONIC CLONIC SEIZURE; ARTICLE; BLOOD; DRUG RESISTANCE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FATALITY; GLYCOSYLATION; MYOCLONUS EPILEPSY; PATHOPHYSIOLOGY; SEIZURE; VIDEORECORDING;

ADOLESCENT; ANTICONVULSANTS; CHILD; DRUG RESISTANCE; DYSTROGLYCANS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY; FATAL OUTCOME; FEMALE; GLYCOSYLATION; HUMANS; MICROCEPHALY; MUSCULAR DYSTROPHIES; SEIZURES; VIDEO RECORDING;

EID: 84856373528     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2011.0461     Document Type: Conference Paper

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