Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

Author:

Rubboli Guido,Franceschetti Silvana,Berkovic Samuel F.,Canafoglia Laura,Gambardella Antonio,Dibbens Leanne M.,Riguzzi Patrizia,Campieri Claudio,Magaudda Adriana,Tassinari Carlo Alberto,Michelucci Roberto

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference38 articles.

1. Action-myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology;Andermann;Adv Neurol,1986

2. Action myoclonus-renal failure syndrome: characterisation of a unique cerebro-renal disorder;Badhwar;Brain,2004

3. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome;Balreira;Hum Mol Genet,2008

4. Progressive myoclonus epilepsies: specific causes and diagnosis;Berkovic;N Engl J Med,1986

5. Kufs’ disease: a critical reappraisal;Berkovic;Brain,1988

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