GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Autor: Arndt Rolfs, Douglas R. Smith, Hongjie Yuan, Markus Wolff, Eirik Frengen, Sarah E Parisotto, Mark A. Tarnopolsky, John Millichap, Katherine L. Helbig, Christian Korff, Lutz Dondit, Anna-Elina Lehesjoki, Alison M. Muir, Brad T. Tinkle, Heather C Mefford, Bodo Laube, Anne T. Berg, Wen-Hann Tan, Kelly L. Jones, Floor E. Jansen, Christine M. Stanley, Candace T. Myers, Isabelle De Bie, John A. Lawson, Henrike O. Heyne, Wenjuan Chen, David Neal Franz, Julie R. Jones, Elysa J. Marco, Nataliya Di Donato, Cyril Mignot, Jasper J. van der Smagt, Stephen F. Traynelis, Tarja Linnankivi, Tim M. Strom, Hirofumi Kusumoto, Rena Vanzo, Petter Strømme, Uffe Birk Jensen, Amy Lacroix, Darius J Adams, Chun Hu, Boris Keren, Sha Tang, Richard J. Leventer, Johannes R. Lemke, Levinus A. Bok, Helio Pedro, Rami Abou Jamra, Dianalee McKnight, Ethan M. Goldberg, Tony Roscioli, Lauren Brady, Konrad Platzer, Philippe Major, Amy Decker, Anup D. Patel, Marcia C. Willing, Ingrid E. Scheffer, Mark Mintz, Eva H. Brilstra, Carolina Courage, Lynette G. Sadleir, Alexander Winschel, William B. Dobyns, Stephanie Fox, Emmanuelle Ranza, Saskia Biskup, Dennis Döcker, Judith D. Ranells, Rikke S. Møller, Elaine H. Zackai, Hannah Schütz, Mieke M. van Haelst, Christel Depienne

Publikováno v: Journal of Medical Genetics, 54(7), 460. BMJ Publishing Group
Journal of Medical Genetics, 54(7), 460-470. BMJ Publishing Group
J. Med. Genet. 54, 460-470 (2017)
Platzer, K, Yuan, H, Schuetz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Stromme, P, Biskup, S, Doecker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Moller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : Novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
Journal of Medical Genetics, Vol. 54, No 7 (2017) pp. 460-470
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A J, Sadleir, L G, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509

BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine.METHODS: Data of 48 individuals with de novo GRIN2B variants were co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfc4236ee8b7ba9c88542cfdf4fb25f
https://doi.org/10.1136/jmedgenet-2016-104509

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