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PRRT2 mutations are the major cause of benign familial infantile seizures.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Schubert J, et al. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22623405
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H. Weber YG, et al. Epilepsia. 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. Epilepsia. 2004. PMID: 15144424 Free article.
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Fan C, Wolking S, Lehmann-Horn F, Hedrich UB, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K. Fan C, et al. Cephalalgia. 2016 Nov;36(13):1238-1247. doi: 10.1177/0333102415608360. Epub 2016 Jul 11. Cephalalgia. 2016. PMID: 26763045 Free PMC article.
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.
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.
246 results