SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome

Dibbens L, Schwake M, Saftig P, Rubboli G (2016)
EPILEPTIC DISORDERS 18(S2): S63-S72.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
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Autor*in
Dibbens, Leanne; Schwake, MichaelUniBi ; Saftig, Paul; Rubboli, Guido
Abstract / Bemerkung
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.
Stichworte
progressive myoclonus epilepsy; myoclonus; cerebellar syndrome; photosensitivity; SCARB2; LIMP2; lysosome
Erscheinungsjahr
2016
Zeitschriftentitel
EPILEPTIC DISORDERS
Band
18
Ausgabe
S2
Seite(n)
S63-S72
ISSN
1294-9361
eISSN
1950-6945
Page URI
https://pub.uni-bielefeld.de/record/2913169

Zitieren

Dibbens L, Schwake M, Saftig P, Rubboli G. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. EPILEPTIC DISORDERS. 2016;18(S2):S63-S72.
Dibbens, L., Schwake, M., Saftig, P., & Rubboli, G. (2016). SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. EPILEPTIC DISORDERS, 18(S2), S63-S72. doi:10.1684/epd.2016.0843
Dibbens, L., Schwake, M., Saftig, P., and Rubboli, G. (2016). SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. EPILEPTIC DISORDERS 18, S63-S72.
Dibbens, L., et al., 2016. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. EPILEPTIC DISORDERS, 18(S2), p S63-S72.
L. Dibbens, et al., “SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome”, EPILEPTIC DISORDERS, vol. 18, 2016, pp. S63-S72.
Dibbens, L., Schwake, M., Saftig, P., Rubboli, G.: SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. EPILEPTIC DISORDERS. 18, S63-S72 (2016).
Dibbens, Leanne, Schwake, Michael, Saftig, Paul, and Rubboli, Guido. “SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome”. EPILEPTIC DISORDERS 18.S2 (2016): S63-S72.

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