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SCARB2/LIMP2 deficiency in action myoclonus‐renal failure syndrome
Author(s) -
Dibbens Leanne,
Schwake Michael,
Saftig Paul,
Rubboli Guido
Publication year - 2016
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2016.0843
Subject(s) - medicine , myoclonus , progressive myoclonus epilepsy , neurology , epilepsy , disease , bioinformatics , neuroscience , endocrinology , biology , anesthesia , psychiatry
Action myoclonus–renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss‐of‐function mutations in the SCARB2 gene encoding lysosomal integral membrane protein type 2 (LIMP2). Recent reports have documented cases with PME associated with SCARB2 mutations without renal compromise. Additional neurological features can be demyelinating peripheral neuropathy, hearing loss and dementia. The course of the disease in relentlessly progressive. In this paper we provide an updated overview of the clinical and genetic features of SCARB2‐related PME and on the functions of the LIMP2 protein.