Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Autor: Margaret O'Brien, Pierangelo Veggiotti, Silvia Masnada, Vinodh Narayanan, Hande Caglayan, Bruria Ben Zeev, Nicholas M. Allen, Kathleen M. Gorman, Eric D. Marsh, Simona Balestrini, Johannes R. Lemke, Ulrike B. S. Hedrich, Elena Gardella, Ralitza H. Gavrilova, Christian Korff, Judith Conroy, Ingo Helbig, Guido Rubboli, Fanny Dubois, Sérgio D.J. Pena, Dafne Dain Gandelman Horovitz, Thomas Bast, Eduardo Zaeyen, Beatriz G. Giráldez, Markus Wolff, Julian Schubert, Holger Lerche, Charu Kaiwar, Mutluay Arslan, Rikke S. Møller, Brenda E. Porter, Christina A.G. Bergqvist, Mary D. King, José M. Serratosa, Brendan C. Lanpher, Adrian Binelli, Eric W. Klee, Michal Tzadok, Keri Ramsey, Steffen Syrbe, Dragan Marjanovic, Sanjay M. Sisodiya, Matthis Synofzik

Publikováno v: Brain, Vol. 140, No 9 (2017) pp. 2337-2354
Masnada, S, Hedrich, U B S, Gardella, E, Schubert, J, Kaiwar, C, Klee, E W, Lanpher, B C, Gavrilova, R H, Synofzik, M, Bast, T, Gorman, K, King, M D, Allen, N M, Conroy, J, Ben Zeev, B, Tzadok, M, Korff, C, Dubois, F, Ramsey, K, Narayanan, V, Serratosa, J M, Giraldez, B G, Helbig, I, Marsh, E, O'Brien, M, Bergqvist, C A, Binelli, A, Porter, B, Zaeyen, E, Horovitz, D D, Wolff, M, Marjanovic, D, Caglayan, H S, Arslan, M, Pena, S D J, Sisodiya, S M, Balestrini, S, Syrbe, S, Veggiotti, P, Lemke, J R, Møller, R S, Lerche, H & Rubboli, G 2017, ' Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies ', Brain, vol. 140, no. 9, pp. 2337-2354 . https://doi.org/10.1093/brain/awx184
Brain 140(9), 2337-2354 (2017). doi:10.1093/brain/awx184

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b391aea93f7b703bf495332ce58677fe
https://pubmed.ncbi.nlm.nih.gov/29050392