scholarly journals Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

2013 ◽  
Vol 55 (1) ◽  
pp. 138-145 ◽  
Author(s):  
Paulo Gaspar ◽  
Wouter W. Kallemeijn ◽  
Anneke Strijland ◽  
Saskia Scheij ◽  
Marco Van Eijk ◽  
...  
Keyword(s):  
Renal Failure ◽  
Lipid Analysis ◽  
Action Myoclonus ◽  
Diagnostic Applications

scholarly journals Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

BMC Neurology ◽  
2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Franziska Hopfner ◽  
Barbara Schormair ◽  
Franziska Knauf ◽  
Achim Berthele ◽  
Thomas R Tölle ◽  
...  
Keyword(s):  
Renal Failure ◽  
Action Myoclonus

REPORT OF TWO SIBLINGS WITH ACTION MYOCLONUS RENAL FAILURE SYNDROME

Seizure ◽  
2021 ◽  
Author(s):  
F.E. Uçan Tokuç ◽  
F. Genç ◽  
A. Erdal ◽  
Y.B. Gömceli
Keyword(s):  
Renal Failure ◽  
Action Myoclonus

scholarly journals Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy

2020 ◽  
Vol 11 ◽  
Author(s):  
Mostafa Hotait ◽  
Maya Dirani ◽  
Tarek El Halabi ◽  
Ahmad Beydoun
Keyword(s):  
Renal Failure ◽  
Frameshift Mutation ◽  
Original Description ◽  
End Stage Renal Failure ◽  
Progressive Myoclonus Epilepsy ◽  
Progressive Ataxia ◽  
Myoclonus Epilepsy ◽  
Action Myoclonus ◽  
Intellectual Capacity ◽  
End Stage

Action myoclonus-renal failure syndrome (AMRF) is a rare, recessively inherited form of progressive myoclonus epilepsy (PME) caused by mutations in the SCARB2 gene and associated with end-stage renal failure. In addition to severe progressive myoclonus, the neurological manifestations of this syndrome are characterized by progressive ataxia and dysarthria with preserved intellectual capacity. Since its original description, an increasing number of “AMRF-like” cases without renal failure have been reported. We describe the case of a 29-year-old woman with progressive disabling myoclonus associated with dysarthria and ataxia who was found to have a novel homozygous frameshift mutation in the SCARB2 gene. In addition, this report emphasizes the presence of two EEG patterns, fixation-off phenomenon, and bursts of parasagittal spikes exclusively seen during REM sleep that appear to be characteristic of this condition.

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

2012 ◽  
Vol 27 (9) ◽  
pp. 1200-1201 ◽  
Author(s):  
Claudia Perandones ◽  
Federico E. Micheli ◽  
Luis A. Pellene ◽  
Marta A. Bayly ◽  
Samuel F. Berkovic ◽  
...  
Keyword(s):  
Renal Failure ◽  
Hearing Loss ◽  
Severe Hearing Loss ◽  
Action Myoclonus

Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome

Nephron ◽  
2019 ◽  
Vol 144 (2) ◽  
pp. 55-58 ◽  
Author(s):  
Geoffroy Desbuissons ◽  
Isabelle Brocheriou ◽  
Guy Touchard ◽  
Jean-Michel Goujon ◽  
Aurélie Méneret ◽  
...  
Keyword(s):  
Renal Failure ◽  
Pathological Findings ◽  
Action Myoclonus

7. Clinical and EEG features of action myoclonus–renal failure syndrome

2013 ◽  
Vol 124 (6) ◽  
pp. e3
Author(s):  
Dina Amrom ◽  
Martin Veilleux ◽  
Leanne M. Dibbens ◽  
Samuel F. Berkovic ◽  
Frederick Andermann ◽  
...  
Keyword(s):  
Renal Failure ◽  
Action Myoclonus ◽  
Eeg Features
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