Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Autor: Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., Kawalia, A., Toliat, M. R., Sander, T., Ruschendorf, F., Caliebe, A., Nagel, I., Kohl, B., Kecskes, A., Jacmin, M., Hardies, K., Weckhuysen, S., Riesch, E., Dorn, T., Brilstra, E. H., Baulac, S., Moller, R. S., Hjalgrim, H., Koeleman, B. P. C., Jurkat-Rott, K., Lehman-Horn, F., Roach, J. C., Glusman, G., Hood, L., Galas, D. J., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nurnberg, P., Crawford, A. D., Esguerra, C. V., Weber, Y. G., Lerche, H., Euro, Epinomics R. E. S. Consortium

Publikováno v: Nature genetics
Nature Genetics
Nature Genetics, Nature Publishing Group, 2014, 46 (12), pp.1327-1332. ⟨10.1038/ng.3130⟩
Schubert, J, Siekierska, A, Langlois, M, May, P, Huneau, C, Becker, F, Muhle, H, Suls, A, Lemke, J R, de Kovel, C G F, Thiele, H, Konrad, K, Kawalia, A, Toliat, M R, Sander, T, Ruschendorf, F, Caliebe, A, Nagel, I, Kohl, B, Kecskes, A, Jacmin, M, Hardies, K, Weckhuysen, S, Riesch, E, Dorn, T, Brilstra, E H, Baulac, S, Moller, R S, Hjalgrim, H, Koeleman, B P C, Jurkat-Rott, K, Lehman-Horn, F, Roach, J C, Glusman, G, Hood, L, Galas, D J, Martin, B, de Witte, P A M, Biskup, S, De Jonghe, P, Helbig, I, Balling, R, Nurnberg, P, Crawford, A D, Esguerra, C V, Weber, Y G, Lerche, H & Euro, E R E S C 2014, ' Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes ', Nature Genetics, vol. 46, no. 12, pp. 1327-1332 . https://doi.org/10.1038/ng.3130
Nature Genetics, 2014, 46 (12), pp.1327-1332. ⟨10.1038/ng.3130⟩

Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report t

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https://pubmed.ncbi.nlm.nih.gov/25362483

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