Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Autor: Roseline Caume, M Scott Perry, Massimo Mastrangelo, Margarete Koch-Hogrebe, Pasquale Striano, Karen Müller-Schlüter, Petra Laššuthová, Monisa D. Wagner, Ingo Helbig, Stephan Lauxmann, Emmanuel Scalais, Marie-Cécile Nassogne, Silvia Masnada, Henrike O. Heyne, Konrad Platzer, Frederic Bilan, Chloe A Stutterd, Sonja Walsh, Katrine M Johannesen, Damien Lederer, Ngoc Minh Le, Christina Fenger, Daniel Tibussek, Lukas Sonnenberg, Andrea Berger, Yuanyuan Liu, Mikhail Abramov, Karen E. Wain, Sergey Korostelev, P Y Billie Au, Elena L. Dadali, An-Sofie Schoonjans, Cornelia Betzler, Artem Borovikov, Johanna Krüger, Maert Rannap, Sebastian Lebon, Nils A Koch, Nancy Eisenhauer, Judith Kroell-Seger, Julian Schubert, Marije Meuwissen, Caroline Lund, Mark Fitzgerald, Federico Zara, Siddharth Srivastava, Claudia M Bonardi, Pia Zacher, Haim Bassan, Arve Vøllo, Katherine B. Howell, Francesca Darra, Guido Rubboli, Stephen W. Scherer, Bénédicte Gérard, Stefano Sartori, Annapurna Poduri, Helene Verhelst, Katalin Sterbova, Mathilde Nizon, Marketa Vlckova, Christina E. Hoei-Hansen, Renzo Guerrini, Ilya V. Kanivets, Juliann M. Savatt, Johannes Rebstock, Jakob Christensen, Cecilia Altuzarra, Dennis Lal, Judith S. Verhoeven, Agathe Roubertie, Constanze Heine, Dagmar Wieczorek, Ingo Borggraefe, Aster V. E. Harder, Anne Destrée, Wen-Hann Tan, Tobias Brünger, Shoji Ichikawa, Laura Canafoglia, Mahmoud Koko, Sergey Kutsev, Sabine Grønborg, Patrizia Accorsi, Heather E. Olson, Bert van der Zwaag, Cathrine E Gjerulfsen, Patrick May, A. A. Sharkov, M. Mahdi Motazacker, Manuela Pendziwiat, Richard J. Leventer, Anna Jansen, Lucio Giordano, Holger Lerche, Carla Marini, Karl Martin Klein, Eva H. Brilstra, Ahmed Eltokhi, Ethan M. Goldberg, Walid Fazeli, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Susanne Ruf, Jennifer L. Howe, Phillis Lakeman, Josua Kegele, Katherine L. Helbig, Marga Buzatu, Alice W Ho, Jan Benda, Ilona Krey, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Johannes R. Lemke, Pierangelo Veggiotti, Tobias Loddenkemper, Gaetan Lesca, Ulrike B. S. Hedrich, Silvana Franceschetti, Elena Gardella, Irina Mishina, María Vaccarezza, Timo Roser

Publikováno v: Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain, 145(9), 2991-3009. Oxford University Press

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3de186f73a35fb1500a80403bc648
https://doi.org/10.1093/brain/awab321

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood

Autor: Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffler, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

Publikováno v: Stamberger, H, Crosiers, D, Balagura, G, Bonardi, C M, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, C A, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, K M, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, McKeown Ruggiero, S, Mochel, F, Ramond, F, Reif, P S, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, R H, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, I E, Striano, P, Møller, R S, Gardella, E & Weckhuysen, S 2022, ' Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood ', Neurology, vol. 99, no. 3, pp. E221-E233 . https://doi.org/10.1212/WNL.0000000000200715
Neurology
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715

Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Published by Wolters Kluwer, Philadelphia, Pa.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c44c6535fedb2cdb8a42772cfe58f9
https://pure.au.dk/ws/files/330041391/NaturalHistoryStudyofSTXBP1_Developmentaland_EpilepticEncephalopathyIntoAdulthood.pdf

Functional effects of Epilepsy associated KCNT1 mutations suggest pathogenesis via aberrant inhibitory neuronal activity

Autor: Grigori Y. Rychkov, Zeeshan Shaukat, Chiao Xin Lim, Rashid Hussain, Ben J. Roberts, Claudia M. Bonardi, Guido Rubboli, Brandon F. Meaney, Robyn Whitney, Rikke S. Møller, Michael G. Ricos, Leanne M. Dibbens

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 23; Pages: 15133
Rychkov, G Y, Shaukat, Z, Lim, C X, Hussain, R, Roberts, B J, Bonardi, C M, Rubboli, G, Meaney, B F, Whitney, R, Møller, R S, Ricos, M G & Dibbens, L M 2022, ' Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity ', International Journal of Molecular Sciences, vol. 23, no. 23, 15133 . https://doi.org/10.3390/ijms232315133

Refereed/Peer-reviewed KCNT1 (K+ channel subfamily T member 1) is a sodium-activated potassium channel highly expressed in the nervous system which regulates neuronal excitability by contributing to the resting membrane potential and hyperpolarisatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::457184502f6a85b277ecd10eb5f5c133
https://hdl.handle.net/11541.2/32306

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Autor: Arve Vøllo, Stephen W. Scherer, Elena Gardella, Irina Mishina, María Vaccarezza, Jennifer L. Howe, Sebastian Lebon, Josua Kegele, Gaetan Lesca, Timo Roser, Silvia Masnada, Johannes Rebstock, Marga Buzatu, Damien Lederer, Ingo Borggraefe, Tobias Brünger, Ulrike B. S. Hedrich, Sergey Korostelev, Frédéric Bilan, Ahmed Eltokhi, M. Mahdi Motazacker, Karen E. Wain, Susanne Ruf, Manuela Pendziwiat, Lukas Sonnenberg, Yuanyuan Liu, Alice W Ho, Silvana Franceschetti, Jan Benda, Ethan M. Goldberg, Helene Verhelst, Julian Schubert, Juliann M. Savatt, Mathilde Nizon, Caroline Lund, Katherine B. Howell, Tobias Loddenkemper, Katherine L. Helbig, Cornelia Betzler, Roseline Caume, Francesca Darra, Richard J. Leventer, Christina Fenger, Pierangelo Veggiotti, Ilona Krey, Nancy Eisenhauer, Andrea Berger, Pasquale Striano, Heather E. Olson, An-Sofie Schoonjans, M Scott Perry, Stephan Lauxmann, Emmanuel Scalais, Petra Laššuthová, Monisa D. Wagner, Ilya V. Kanivets, A. A. Sharkov, P Y Billie Au, Mahmoud Koko, Siddharth Srivastava, Jakob Christensen, Artem Borovikov, Mette U Schmidt-Petersen, Anna Jansen, Judith S. Verhoeven, Johanna Krüger, Claudia M Bonardi, Shoji Ichikawa, Patrick May, Sabine Grønborg, Johannes R. Lemke, Marije Meuwissen, Katalin Sterbova, Mark Fitzgerald, Lucio Giordano, Holger Lerche, Mikhail Abramov, Bénédicte Gérard, Elena L. Dadali, Cecilia Altuzarra, Aster V. E. Harder, Stefano Sartori, Katrine M Johannesen, Sergey Kutsev, Maert Rannap, Renzo Guerrini, Dagmar Wieczorek, Laura Canafoglia, Annapurna Poduri, Christina E. Hoei-Hansen, Agathe Roubertie, Nils A Koch, Karen Müller-Schlüter, Chloe A Stutterd, Ngoc Minh Le, Pia Zacher, Constanze Heine, Sonja Walsh, Carla Marini, Federico Zara, Karl Martin Klein, Eva H. Brilstra, Guido Rubboli, Walid Fazeli, Judith Kroell-Seger, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Phillis Lakeman, Massimo Mastrangelo, Margarete Koch-Hogrebe, Ingo Helbig, Daniel Tibussek, Marketa Vlckova, Anne Destrée, Wen-Hann Tan, Haim Bassan, Dennis Lal, Patrizia Accorsi, Bert van der Zwaag, Cathrine E Gjerulfsen, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Marie-Cécile Nassogne

We report detailed functional analyses and genotype-phenotype correlations in 433 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6. Five different clinical subgroups could be identified: 1) Benign

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35d884802200fc5b70287f52bd03bbc0
https://doi.org/10.1101/2021.03.22.21253711

Vitoria Bay Pollution Study in the Frame of TAGUBAR Research Project—Geochemistry of the Sediments of Espirito Santo Bay

Autor: Guido Perin, M. Bonardi, Andrea Giacometti

The Bay of Espirito Santo is located in the Espírito Santo State, in the eastern part of Brazil. It is surrounded by the city of Vitoria on one side and by the Atlantic Ocean on the other. Superficial sediments of Espirito Santo Bay were analyzed at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8094f5f6839aab06890520351d8e348e
https://doi.org/10.20944/preprints201810.0559.v1