Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations

Epilepsia

Volumn 52, Issue 12, 2011, Pages 2356-2363

  Rubboli, Guido ^a   Franceschetti, Silvana ^b   Berkovic, Samuel F ^c   Canafoglia, Laura ^b   Gambardella, Antonio ^d   Dibbens, Leanne M ^e   Riguzzi, Patrizia ^a   Campieri, Claudio ^f   Magaudda, Adriana ^g   Tassinari, Carlo Alberto ^a   Michelucci, Roberto ^a  

^a IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f MAGGIORE HOSPITAL   (Italy)

^g UNIVERSITY OF MESSINA   (Italy)

Author keywords

Cortical tremor; Myoclonus; Progressive myoclonus epilepsy; Renal failure; SCARB2

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EPILEPSY; EPILEPTIC STATE; EVOKED RESPONSE; FEMALE; GENE; GENE MUTATION; HUMAN; KIDNEY FAILURE; MALE; MYOCLONUS; MYOCLONUS EPILEPSY; NEUROPHYSIOLOGY; ONSET AGE; PHOTOSENSITIVITY; PRIORITY JOURNAL; SCARB2 GENE; SLEEP PATTERN; TREMOR; WAKEFULNESS;

ADULT; BRAIN; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PHOTIC STIMULATION; RECEPTORS, SCAVENGER; REFLEX; RENAL INSUFFICIENCY; TIME FACTORS; YOUNG ADULT;

EID: 82955232423     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03307.x     Document Type: Article

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