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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H. Weber YG, et al. J Clin Invest. 2008 Jun;118(6):2157-68. doi: 10.1172/JCI34438. J Clin Invest. 2008. PMID: 18451999 Free PMC article.
Ion channel defects in idiopathic epilepsies.
Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F. Lerche H, et al. Curr Pharm Des. 2005;11(21):2737-52. doi: 10.2174/1381612054546815. Curr Pharm Des. 2005. PMID: 16101452 Review.
Hereditary channelopathies in neurology.
Jurkat-Rott K, Lerche H, Weber Y, Lehmann-Horn F. Jurkat-Rott K, et al. Adv Exp Med Biol. 2010;686:305-34. doi: 10.1007/978-90-481-9485-8_18. Adv Exp Med Biol. 2010. PMID: 20824453 Review.
[Ion channel diseases in neurology].
Lerche H, Mitrovic N, Lehmann-Horn F. Lerche H, et al. Fortschr Neurol Psychiatr. 1997 Nov;65(11):481-8. doi: 10.1055/s-2007-996354. Fortschr Neurol Psychiatr. 1997. PMID: 9480290 Review. German.
Skeletal muscle channelopathies.
Jurkat-Rott K, Lerche H, Lehmann-Horn F. Jurkat-Rott K, et al. J Neurol. 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. J Neurol. 2002. PMID: 12420087 Review.
Ion channels and epilepsy.
Lerche H, Jurkat-Rott K, Lehmann-Horn F. Lerche H, et al. Am J Med Genet. 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582. Am J Med Genet. 2001. PMID: 11579435 Review.
246 results