Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Christina A.G. Bergqvist"'
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
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
https://pubmed.ncbi.nlm.nih.gov/29050392
Autor:
Zaid Afawi, Bobby P. C. Koeleman, Christina A.G. Bergqvist, Carolien G.F. de Kovel, Vijayakumar Jayaraman, Sonal Desai, Eric D. Marsh, Holly Dubbs, Ethan M. Goldberg, Tilman Polster, Eva H. Brilstra, Laura K. Conlin, Bronwyn Kerr, Ramakrishnan Rajagopalan, Johannes R. Lemke, Hande Cagaylan, Manuela Pendziwiat, Uluç Yiş, Ingo Borggraefe, Ingo Helbig, Allan Bayat, Sudha Kilaru Kessler, Nienke E. Verbeek, Siddharth Srivastava, Marie-José van den Boogaardt, Sakkubai Naidu, Carol J Saunders, Isabelle Thiffault, Rikke S. Møller, Karl-Martin Klein, Hiltrud Muhle, Susanna Plugge, Martin B. Rook, Steffen Syrbe, Bryan L Krok
Publikováno v:
de Kovel, C G F, Syrbe, S, Brilstra, E H, Verbeek, N E, Kerr, B, Dubbs, H, Bayat, A, Desai, S, Naidu, S, Srivastava, S, Cagaylan, H, Yis, U, Saunders, C, Rook, M, Plugge, S, Muhle, H, Afawi, Z, Klein, K-M, Jayaraman, V, Rajagopalan, R, Goldberg, E, Marsh, E, Kessler, S, Bergqvist, C, Conlin, L K, Krok, B L, Thiffault, I, Pendziwiat, M, Helbig, I, Polster, T, Borggraefe, I, Lemke, J R, van den Boogaardt, M-J, Møller, R S & Koeleman, B P C 2017, ' Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes ', Archives of Neurology, vol. 74, no. 10, pp. 1228-1236 . https://doi.org/10.1001/jamaneurol.2017.1714
JAMA Neurology, 74(10), 1228. American Medical Association
JAMA Neurology
JAMA Neurology, 74(10), 1228. American Medical Association
JAMA Neurology
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.Obj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::926acd6e06026ae01c9d181ccbb93bda
https://doi.org/10.1001/jamaneurol.2017.1714
https://doi.org/10.1001/jamaneurol.2017.1714
Publikováno v:
Neurology. 48(4)
There are only two reported cases of unilateral posterior cervical spinal cord infarction as a result of vertebral artery dissection. We describe the first reported case of bilateral posterior spinal cord infarction caused by vertebral artery dissect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bb09227dbb07332af28de5edebe2235
https://pubmed.ncbi.nlm.nih.gov/9109913
https://pubmed.ncbi.nlm.nih.gov/9109913