A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-021-05196-0.pdf
Reference27 articles.
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2. Kälviäinen R (2015) Progressive myoclonus epilepsies. Semin Neurol 35:293–299. https://doi.org/10.1055/s-0035-1552620
3. Scala M, Bisulli F, Coppola A, Elia M (2020) Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. Expert Rev Neurother 20:251–269. https://doi.org/10.1080/14737175.2020.1713101
4. Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82:673–684. https://doi.org/10.1016/j.ajhg.2007.12.019
5. Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J (2011) Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. BMC Neurol 11:134. https://doi.org/10.1186/1471-2377-11-134
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