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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.
Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klinger W, Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK. Lerche H, et al. Ann Neurol. 1999 Sep;46(3):305-12. doi: 10.1002/1531-8249(199909)46:3<305::aid-ana5>3.0.co;2-5. Ann Neurol. 1999. PMID: 10482260
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.
Teaching course: ion channelopathies in neurology.
Jurkat-Rott K, Lerche H, Mitrovic N, Lehmann-Horn F. Jurkat-Rott K, et al. Among authors: lerche h. J Neurol. 1999 Sep;246(9):758-63. doi: 10.1007/s004150050451. J Neurol. 1999. PMID: 10525971 Review. No abstract available.
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H. Weber YG, et al. Among authors: lerche h. Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832227
342 results