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The Causes of Epilepsy The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
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Chapter 22 - Action myoclonus–renal failure syndrome

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

This chapter presents the neurophysiology, pathophysiology, diagnostic testing for action myoclonus-renal failure syndrome (AMRF). AMRF is a form of progressive myoclonus epilepsy first described in four French-Canadian patients belonging to three apparently unrelated sibships living in different regions of Quebec. All patients with AMRF develop action myoclonus and seizures. Most of the patients showed diffuse cerebral and cerebellar atrophy, although some patients had normal computed tomography (CT) and magnetic resonance imaging (MRI) findings. The renal pathology based on renal biopsy specimens showed focal glomerulosclerosis in all patients examined, with features of collapsing glomerulopathy in some. Patients with AMRF have been reported to have normal or low normal β-GC in leukocytes, but very low levels in cultured fibroblasts, and elevated levels in serum. More recently, levetiracetam has been utilized for these patients, and other derivatives are now in clinical trials.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 169 - 171
Publisher: Cambridge University Press
Print publication year: 2011

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