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10 results on '"Guët, Agnès"'

1. Further refinement of COL4A1 and COL4A2 related cortical malformations

Author

Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, and Bahi-Buisson, Nadia

Published
2018
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2. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Author

Khatri, Deepak, primary, Putoux, Audrey, additional, Cologne, Audric, additional, Kaltenbach, Sophie, additional, Besson, Alicia, additional, Bertiaux, Eloïse, additional, Guguin, Justine, additional, Fendler, Adèle, additional, Dupont, Marie A., additional, Benoit-Pilven, Clara, additional, Qebibo, Leila, additional, Ahmed-Elie, Samira, additional, Audebert-Bellanger, Séverine, additional, Blanc, Pierre, additional, Rambaud, Thomas, additional, Castelle, Martin, additional, Cornen, Gaëlle, additional, Grotto, Sarah, additional, Guët, Agnès, additional, Guibaud, Laurent, additional, Michot, Caroline, additional, Odent, Sylvie, additional, Ruaud, Lyse, additional, Sacaze, Elise, additional, Hamel, Virginie, additional, Bordonné, Rémy, additional, Leutenegger, Anne-Louise, additional, Edery, Patrick, additional, Burglen, Lydie, additional, Attié-Bitach, Tania, additional, Mazoyer, Sylvie, additional, and Delous, Marion, additional

Published
2023
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3. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects

Author

Khatri, Deepak, primary, Putoux, Audrey, additional, Cologne, Audric, additional, Kaltenbach, Sophie, additional, Besson, Alicia, additional, Bertiaux, Eloïse, additional, Guguin, Justine, additional, Fendler, Adèle, additional, Dupont, Marie A., additional, Benoit-Pilven, Clara, additional, Grotto, Sarah, additional, Ruaud, Lyse, additional, Michot, Caroline, additional, Castelle, Martin, additional, Guët, Agnès, additional, Guibaud, Laurent, additional, Hamel, Virginie, additional, Bordonné, Rémy, additional, Leutenegger, Anne-Louise, additional, Attié-Bitach, Tania, additional, Edery, Patrick, additional, Mazoyer, Sylvie, additional, and Delous, Marion, additional

Published
2021
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5. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Author

Bar, Claire, primary, Kuchenbuch, Mathieu, additional, Barcia, Giulia, additional, Schneider, Amy, additional, Jennesson, Mélanie, additional, Le Guyader, Gwenaël, additional, Lesca, Gaetan, additional, Mignot, Cyril, additional, Montomoli, Martino, additional, Parrini, Elena, additional, Isnard, Hervé, additional, Rolland, Anne, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Dorison, Nathalie, additional, Sadleir, Lynette G., additional, Breuillard, Delphine, additional, Levy, Raphael, additional, Rio, Marlène, additional, Dupont, Sophie, additional, Negrin, Susanna, additional, Danieli, Alberto, additional, Scalais, Emmanuel, additional, De Saint Martin, Anne, additional, El Chehadeh, Salima, additional, Chelly, Jamel, additional, Poisson, Alice, additional, Lebre, Anne‐Sophie, additional, Nica, Anca, additional, Odent, Sylvie, additional, Sekhara, Tayeb, additional, Brankovic, Vesna, additional, Goldenberg, Alice, additional, Vrielynck, Pascal, additional, Lederer, Damien, additional, Maurey, Hélène, additional, Terrone, Gaetano, additional, Besmond, Claude, additional, Hubert, Laurence, additional, Berquin, Patrick, additional, Billette de Villemeur, Thierry, additional, Isidor, Bertrand, additional, Freeman, Jeremy L., additional, Mefford, Heather C., additional, Myers, Candace T., additional, Howell, Katherine B., additional, Rodríguez‐Sacristán Cascajo, Andrés, additional, Meyer, Pierre, additional, Genevieve, David, additional, Guët, Agnès, additional, Doummar, Diane, additional, Durigneux, Julien, additional, van Dooren, Marieke F., additional, de Wit, Marie Claire Y., additional, Gerard, Marion, additional, Marey, Isabelle, additional, Munnich, Arnold, additional, Guerrini, Renzo, additional, Scheffer, Ingrid E., additional, Kabashi, Edor, additional, and Nabbout, Rima, additional

Published
2020
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6. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Author

Bar, Claire, primary, Barcia, Giulia, additional, Jennesson, Mélanie, additional, Le Guyader, Gwenaël, additional, Schneider, Amy, additional, Mignot, Cyril, additional, Lesca, Gaetan, additional, Breuillard, Delphine, additional, Montomoli, Martino, additional, Keren, Boris, additional, Doummar, Diane, additional, Billette de Villemeur, Thierry, additional, Afenjar, Alexandra, additional, Marey, Isabelle, additional, Gerard, Marion, additional, Isnard, Hervé, additional, Poisson, Alice, additional, Dupont, Sophie, additional, Berquin, Patrick, additional, Meyer, Pierre, additional, Genevieve, David, additional, De Saint Martin, Anne, additional, El Chehadeh, Salima, additional, Chelly, Jamel, additional, Guët, Agnès, additional, Scalais, Emmanuel, additional, Dorison, Nathalie, additional, Myers, Candace T., additional, Mefford, Heather C., additional, Howell, Katherine B., additional, Marini, Carla, additional, Freeman, Jeremy L., additional, Nica, Anca, additional, Terrone, Gaetano, additional, Sekhara, Tayeb, additional, Lebre, Anne‐Sophie, additional, Odent, Sylvie, additional, Sadleir, Lynette G., additional, Munnich, Arnold, additional, Guerrini, Renzo, additional, Scheffer, Ingrid E., additional, Kabashi, Edor, additional, and Nabbout, Rima, additional

Published
2019
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7. DYRK1A mutations in two unrelated patients

Author

Ruaud, Lyse, Mignot, Cyril, Guët, Agnès, Ohl, Christelle, Nava, Caroline, Héron, Delphine, Keren, Boris, Depienne, Christel, Benoit, Valérie, Maystadt, Isabelle, Lederer, Damien, Amsallem, Daniel, and Piard, Juliette

Published
2015
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8. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Author

Rice, Gillian, primary, Patrick, Teresa, additional, Parmar, Rekha, additional, Taylor, Claire F., additional, Aeby, Alec, additional, Aicardi, Jean, additional, Artuch, Rafael, additional, Montalto, Simon Attard, additional, Bacino, Carlos A., additional, Barroso, Bruno, additional, Baxter, Peter, additional, Benko, Willam S., additional, Bergmann, Carsten, additional, Bertini, Enrico, additional, Biancheri, Roberta, additional, Blair, Edward M., additional, Blau, Nenad, additional, Bonthron, David T., additional, Briggs, Tracy, additional, Brueton, Louise A., additional, Brunner, Han G., additional, Burke, Christopher J., additional, Carr, Ian M., additional, Carvalho, Daniel R., additional, Chandler, Kate E., additional, Christen, Hans-Jürgen, additional, Corry, Peter C., additional, Cowan, Frances M., additional, Cox, Helen, additional, D’Arrigo, Stefano, additional, Dean, John, additional, De Laet, Corinne, additional, De Praeter, Claudine, additional, Déry, Catherine, additional, Ferrie, Colin D., additional, Flintoff, Kim, additional, Frints, Suzanna G.M., additional, Garcia-Cazorla, Angels, additional, Gener, Blanca, additional, Goizet, Cyril, additional, Goutières, Françoise, additional, Green, Andrew J., additional, Guët, Agnès, additional, Hamel, Ben C.J., additional, Hayward, Bruce E., additional, Heiberg, Arvid, additional, Hennekam, Raoul C., additional, Husson, Marie, additional, Jackson, Andrew P., additional, Jayatunga, Rasieka, additional, Jiang, Yong-Hui, additional, Kant, Sarina G., additional, Kao, Amy, additional, King, Mary D., additional, Kingston, Helen M., additional, Klepper, Joerg, additional, van der Knaap, Marjo S., additional, Kornberg, Andrew J., additional, Kotzot, Dieter, additional, Kratzer, Wilfried, additional, Lacombe, Didier, additional, Lagae, Lieven, additional, Landrieu, Pierre Georges, additional, Lanzi, Giovanni, additional, Leitch, Andrea, additional, Lim, Ming J., additional, Livingston, John H., additional, Lourenco, Charles M., additional, Lyall, E. G. Hermione, additional, Lynch, Sally A., additional, Lyons, Michael J., additional, Marom, Daphna, additional, McClure, John P., additional, McWilliam, Robert, additional, Melancon, Serge B., additional, Mewasingh, Leena D., additional, Moutard, Marie-Laure, additional, Nischal, Ken K., additional, Østergaard, John R., additional, Prendiville, Julie, additional, Rasmussen, Magnhild, additional, Rogers, R. Curtis, additional, Roland, Dominique, additional, Rosser, Elisabeth M., additional, Rostasy, Kevin, additional, Roubertie, Agathe, additional, Sanchis, Amparo, additional, Schiffmann, Raphael, additional, Scholl-Bürgi, Sabine, additional, Seal, Sunita, additional, Shalev, Stavit A., additional, Corcoles, C. Sierra, additional, Sinha, Gyan P., additional, Soler, Doriette, additional, Spiegel, Ronen, additional, Stephenson, John B.P., additional, Tacke, Uta, additional, Tan, Tiong Yang, additional, Till, Marianne, additional, Tolmie, John L., additional, Tomlin, Pam, additional, Vagnarelli, Federica, additional, Valente, Enza Maria, additional, Van Coster, Rudy N.A., additional, Van der Aa, Nathalie, additional, Vanderver, Adeline, additional, Vles, Johannes S.H., additional, Voit, Thomas, additional, Wassmer, Evangeline, additional, Weschke, Bernhard, additional, Whiteford, Margo L., additional, Willemsen, Michel A.A., additional, Zankl, Andreas, additional, Zuberi, Sameer M., additional, Orcesi, Simona, additional, Fazzi, Elisa, additional, Lebon, Pierre, additional, and Crow, Yanick J., additional

Published
2007
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10. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Author

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, and Nabbout R

Subjects
Alleles, Genotype, Humans, Phenotype, Shab Potassium Channels chemistry, Shab Potassium Channels metabolism, Structure-Activity Relationship, Epilepsy diagnosis, Epilepsy genetics, Genetic Association Studies methods, Genetic Predisposition to Disease, Genetic Variation, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics, Shab Potassium Channels genetics
Abstract

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the α subunit of the delayed rectifier voltage-dependent potassium channel K v 2.1. We review the 37 previously reported patients carrying 29 distinct KCNB1 variants and significantly expand the mutational spectrum describing 18 novel variants from 27 unreported patients. Most variants occur de novo and mainly consist of missense variants located on the voltage sensor and the pore domain of K v 2.1. We also report the first inherited variant (p.Arg583*). KCNB1-related encephalopathies encompass a wide spectrum of neurodevelopmental disorders with predominant language difficulties and behavioral impairment. Eighty-five percent of patients developed epilepsies with variable syndromes and prognosis. Truncating variants in the C-terminal domain are associated with a less-severe epileptic phenotype. Overall, this report provides an up-to-date review of the mutational and clinical spectrum of KCNB1, strengthening its place as a causal gene in DEEs and emphasizing the need for further functional studies to unravel the underlying mechanisms., (© 2019 Wiley Periodicals, Inc.)

Published
2020
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