Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies

Autor: Amy McTague, Katrien Jansen, Damien Lederer, Rikke S. Møller, Nathan L. Absalom, Kavitha Kothur, Vivian Wan Yu Liao, Michael T. Bowen, Sachin Gupta, Philip K. Ahring, Iain S. McGregor, Mary Chebib, Shekeeb S. Mohammad, Russell C. Dale, Bruce Bennetts, Christopher Troedson, Manju A. Kurian, Sandrine Mary, Deepak Gill, Dinesh C. Indurthi, Liesbeth De Waele

Publikováno v: Absalom, N L, Liao, V W Y, Kothur, K, Indurthi, D C, Bennetts, B, Troedson, C, Mohammad, S S, Gupta, S, McGregor, I S, Bowen, M T, Lederer, D, Mary, S, De Waele, L, Jansen, K, Gill, D, Kurian, M A, McTague, A, Møller, R S, Ahring, P K, Dale, R C & Chebib, M 2020, ' Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies ', Brain Communications, vol. 2, no. 2, fcaa162 . https://doi.org/10.1093/braincomms/fcaa162
Brain Communications

Variants in the GABRB3 gene encoding the β3-subunit of the γ-aminobutyric acid type A ( receptor are associated with various developmental and epileptic encephalopathies. Typically, these variants cause a loss-of-function molecular phenotype whereb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::075a6479ac1e13d0b4858be79e6138fc
https://findresearcher.sdu.dk:8443/ws/files/180275706/fcaa162.pdf

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Autor: Elena Gardella, Lieven Lagae, Thomas Schmitt-Mechelke, Gerhard Kluger, Nine V A M Knoers, Sandrine Mary, Marina Trivisano, Grazia M.S. Mancini, Cyril Mignot, Laila Selim, Katrine M Johannesen, Karen Markussen Linnet, Ulrike B. S. Hedrich, Maria J Miranda, Walid Fazeli, Miriam Döcker, Hannah Stamberger, Rikke S. Møller, Stéphane Auvin, Saskia Biskup, Maja Hempel, Laurence Perrin, Laurent Villard, Claudio Finetti, Ingo Helbig, Nicola Specchio, Eve Õiglane-Shlik, Holger Lerche, Peter De Jonghe, John F Mantovani, Daniel H. Arndt, Helle Hjalgrim, Dinesh V Jillella, Ingeborg Krägeloh-Mann, Pasquale Striano, Sarah Weckhuysen, Silvia Masnada, Marie Deprez, G. Christoph Korenke, Elena Fontana, Ute Moog, Jess G. Thoene, Kristen Park, Thomas Bast, Reinhard Brückner, Rudy Van Coster, Beverly Wical, Sandra Chantot-Bastaraud, Damien Lederer, Eva H. Brilstra, Gaetan Lesca, Markus Wolff, Joerg Klepper, Diane Doummar, Robertino Dilena, Kees P.J. Braun, Nienke E. Verbeek, Alexandra Afenjar, Mathieu Milh, Oliver Maier, Perrine Charles, Marion Gérard, Katia Hardies, Emmanuel Scalais, Joachim Pietz, Federico Zara, Marjan J. A. van Kempen, Guido Rubboli, Hiltrud Muhle, Caroline Lardennois, Günther Golla, Johannes R. Lemke, Thomas Dorn, Berten Ceulemans, Gerhard Kurlemann, Tobias Loddenkemper, Nicolas Deconinck, Lily C. Wong-Kisiel, Friedrich A. M. Baumeister, Niklas Schwarz, Katherine L. Helbig, Konstanze Hörtnagel, Marina Nikanorova, Caroline Nava, Dorothée Ville

Publikováno v: Brain, 140(5), 1316. Oxford University Press
Brain, 140, 1316-1336. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gérard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N V, Verbeek, N E, van Kempen, M J A, Braun, K P J, Mancini, G, Biskup, S, Hörtnagel, K, Döcker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brückner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Õiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, De Jonghe, P, Weckhuysen, S, Lemke, J R, Krägeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Møller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, no. 5, pp. 1316–1336 . https://doi.org/10.1093/brain/awx054
Brain, 140(5), 1316-1336. Oxford University Press
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gerard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, K P, Mancini, G, Biskup, S, Hoertnagel, K, Doecker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brueckner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Oiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, de Jonghe, P, Weckhuysen, S, Lemke, J R, Kraegeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Moller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, pp. 1316-1336 . https://doi.org/10.1093/brain/awx054

International audience; Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47496a709295274c6c412d47a65d5e6d
https://dspace.library.uu.nl/handle/1874/361527