Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Tayeb Sekhara"'
Autor:
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods We performed detailed ph
Externí odkaz:
https://doaj.org/article/7feac2e044344c5c91673d23c2f81236
Autor:
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Abstract Background Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods Two pediatric patients with global developmental delay and intellectual disability phenotype underwent
Externí odkaz:
https://doaj.org/article/1e373d346a364c37be5ee81901ae9524
Autor:
Claire Bar, Delphine Breuillard, Mathieu Kuchenbuch, Mélanie Jennesson, Gwenaël Le Guyader, Hervé Isnard, Anne Rolland, Diane Doummar, Joel Fluss, Alexandra Afenjar, Patrick Berquin, Anne De Saint Martin, Sophie Dupont, Alice Goldenberg, Damien Lederer, Gaétan Lesca, Hélène Maurey, Pierre Meyer, Cyril Mignot, Anca Nica, Sylvie Odent, Alice Poisson, Emmanuel Scalais, Tayeb Sekhara, Pascal Vrielynck, Giulia Barcia, Rima Nabbout
Publikováno v:
Epilepsy & Behavior
Epilepsy & Behavior, [San Diego CA]: Elsevier B.V., 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Epilepsy & Behavior, [San Diego CA]: Elsevier B.V., 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
Epilepsy & Behavior, 2022, 126, pp.108471. ⟨10.1016/j.yebeh.2021.108471⟩
International audience; Aim: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to captur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f727a2584974e9f56a051aa8168a13
https://hal.archives-ouvertes.fr/hal-03485808
https://hal.archives-ouvertes.fr/hal-03485808
Autor:
Bettina Blaumeiser, Alec Aeby, Marc Abramowicz, Isabelle Pirson, Cindy Badoer, Helene Verhelst, Kathelijn Keymolen, Berten Ceulemans, Hilde Van Esch, Stéphanie Moortgat, Anne Destree, Patrick Van Bogaert, Sarah Duerinckx, Yusuf Tunca, Valérie Jacquemin, Olivier Vanakker, Nicolas Deconinck, Sarah Weckhuysen, Camille Perazzolo, Marije E.C. Meuwissen, Anna Jansen, Sandrine Passemard, Damien Lederer, Winnie Courtens, Rudy Van Coster, Koenraad Devriendt, Tayeb Sekhara, Nathalie Van der Aa, Isabelle Maystadt, Bart Loeys, Julie Soblet, François-Guillaume Debray, Marie-Cécile Nassogne, Geert Mortier, Julie Désir, Alain Verloes, Catheline Vilain, Jenny Van Den Ende
Publikováno v:
Molecular genetics & genomic medicine
MOLECULAR GENETICS & GENOMIC MEDICINE
Molecular genetics & genomic medicine, Vol. 9, no. 9, p. e1768 [1-19] (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
MOLECULAR GENETICS & GENOMIC MEDICINE
Molecular genetics & genomic medicine, Vol. 9, no. 9, p. e1768 [1-19] (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed detailed phenotypi
Autor:
Julie Désir, Catheline Vilain, Sarah Duerinckx, Isabelle Pirson, Olivier Vanakker, Tayeb Sekhara, Bart Loeys, Camille Perazzolo, Marije E.C. Meuwissen, Geert Mortier, Cindy Badoer, Kathelijn Keymolen, Bettina Blaumeiser, Gert Matthijs, Stéphanie Moortgat, Patrick Van Bogaert, Jenneke van den Ende, Yusuf Tunca, Hilde Van Esch, Marc Abramowicz, Julie Soblet, Koen Devriendt, Valérie Jacquemin, Anna Jansen, Sarah Weckhuysen, François-Guillaume Debray, Sandrine Passemard, Damien Lederer, Alain Verloes, Nathalie Van der Aa, Marie-Cécile Nassogne, Helene Verhelst, Alec Aeby, Anne Destree, Winnie Courtens, Isabelle Maystadt, Nicolas Deconinck, Berten Ceulemans, Rudy Van Coster
Primary microcephaly (PM) is defined as a significant reduction in occipito-frontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. We performed detailed phenotypic and genomic analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99302e99feb13953d057e9d71b4115c3
https://doi.org/10.22541/au.160978661.19941555/v1
https://doi.org/10.22541/au.160978661.19941555/v1
Autor:
Rima Nabbout, Patrick Berquin, Sylvie Odent, Mathieu Kuchenbuch, Gwenaël Le Guyader, Marieke F. van Dooren, Jamel Chelly, Edor Kabashi, Melanie Jennesson, Giulia Barcia, Cyril Mignot, Tayeb Sekhara, Alexandra Afenjar, Marlène Rio, Anne Rolland, Claude Besmond, Andrés Rodríguez-Sacristán Cascajo, Gaetano Terrone, Isabelle Marey, Boris Keren, Alice Goldenberg, A.S. Lebre, Heather C Mefford, Gaetan Lesca, Anne de Saint Martin, Susanna Negrin, Nathalie Dorison, Hélène Maurey, Agnès Guët, David Geneviève, Marie Claire Y. de Wit, Jeremy L. Freeman, Pierre Meyer, Thierry Billette de Villemeur, Ingrid E. Scheffer, Katherine B. Howell, Anca Nica, Raphael Levy, Martino Montomoli, Renzo Guerrini, Elena Parrini, Candace T. Myers, Bertrand Isidor, Alice Poisson, Marion Gérard, Salima El Chehadeh, Lynette G. Sadleir, Julien Durigneux, Pascal Vrielynck, Amy L Schneider, Emmanuel Scalais, Laurence Hubert, Sophie Dupont, Vesna Brankovic, Damien Lederer, Hervé Isnard, Delphine Breuillard, Claire Bar, Alberto Danieli, Diane Doummar, Arnold Munnich
Publikováno v:
Epilepsia
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, Wiley, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, 61(11), 2461-2473. Wiley-Blackwell Publishing Ltd
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, Wiley, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, 61(11), 2461-2473. Wiley-Blackwell Publishing Ltd
Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3e62c02513d68aa9825d00009bfe7a
https://univ-rennes.hal.science/hal-02959318
https://univ-rennes.hal.science/hal-02959318
Autor:
Delphine Breuillard, Isabelle Marey, Claire Bar, Tayeb Sekhara, Candace T. Myers, Diane Doummar, Alice Poisson, Hervé Isnard, Nathalie Dorison, Gwenaël Le Guyader, Arnold Munnich, Alexandra Afenjar, Anne de Saint Martin, Jamel Chelly, Gaetan Lesca, Gaetano Terrone, Rima Nabbout, Jeremy L. Freeman, David Geneviève, Sophie Dupont, Cyril Mignot, Katherine B. Howell, Giulia Barcia, Melanie Jennesson, Patrick Berquin, Sylvie Odent, Boris Keren, Ingrid E. Scheffer, Renzo Guerrini, Emmanuel Scalais, Thierry Billette de Villemeur, Martino Montomoli, Agnès Guët, Pierre Meyer, Anca Nica, Anne-Sophie Lebre, Edor Kabashi, Carla Marini, Amy L Schneider, Marion Gérard, Salima El Chehadeh, Heather C Mefford, Lynette G. Sadleir
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Human Mutation, Wiley, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩
International audience; 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 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aabae81e940dc27c41c078e18bdb7e5
https://hal.archives-ouvertes.fr/hal-02302579
https://hal.archives-ouvertes.fr/hal-02302579
Autor:
Melanie Staebler, Catherine Christophe, Isabelle Delpierre, Nadira Azzi, Nasroolla Damry, Tayeb Sekhara
Publikováno v:
Pediatric Radiology. 35:1121-1124
Lumbar puncture may lead to neurological complications. These include intracranial hypotension, cervical epidural haematomas, and cranial and lumbar subdural haematomas. MRI is the modality of choice to diagnose these complications. This report docum
Publikováno v:
Archives de Pédiatrie. 11:1389-1397
There are various causes of headaches in children. The majority of cases are considered as primary and include migraine and tension headaches. Headaches secondary to an underlying pathology are much less frequent. The aim of imaging will be to depict
Publikováno v:
Seizure. 12:483-489
In children, non-convulsive status epilepticus (NCSE) is rare and difficult to treat. Response to steroids and GABAergic medication is variable and often decreases with increasing duration of NCSE. We present our experience with oral ketamine, an NMD