Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Autor: Mignot, C., von Stulpnage, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Uluc, Yis, Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C., Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hortnagel, K., Biskup, S., Lemke, J. R., Heron, D., Kluger, G., Depienne, C., Craiu, D., De Jonghe, P., Helbig, I., Guerrini, R., Lehesjoki, A. -E., Marini, C., Muhle, H., Moller, R. S., Neubauer, B., Pal, D., Selmer, K., Stephani, U., Sterbova, K., Striano, P., Talvik, T., von Spiczak, S.

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Journal of Medical Genetics, Vol. 53, No 8 (2016) pp. 511-22
Journal of medical genetics
Journal of Medical Genetics, 2016, ⟨10.1136/jmedgenet-2015-103451⟩
Mignot, C, von Stülpnagel, C, Nava, C, Ville, D, Sanlaville, D, Lesca, G, Rastetter, A, Gachet, B, Marie, Y, Korenke, G C, Borggraefe, I, Hoffmann-Zacharska, D, Szczepanik, E, Rudzka-Dybała, M, Yiş, U, Çağlayan, H, Isapof, A, Marey, I, Panagiotakaki, E, Korff, C, Rossier, E, Riess, A, Beck-Woedl, S, Rauch, A, Zweier, C, Hoyer, J, Reis, A, Mironov, M, Bobylova, M, Mukhin, K, Hernandez-Hernandez, L, Maher, B, Sisodiya, S, Kuhn, M, Glaeser, D, Wechuysen, S, Myers, C T, Mefford, H C, Hörtnagel, K, Biskup, S, EuroEPINOMICS-RES MAE working group, Lemke, J R, Héron, D, Kluger, G, Depienne, C & Møller, R S 2016, ' Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy ', Journal of Medical Genetics, vol. 53, no. 8, pp. 511-522 . https://doi.org/10.1136/jmedgenet-2015-103451

Mae Euroepinomics-Res Mae; International audience; Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.Methods We sequenced the exome or screened the e

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