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Affichage: 9 résultats.
    • Article de périodique
    Clinical spectrum of -related epileptic disorders.
    Wolking, Stefan May, Patrick Mei, Davide Møller, Rikke S Balestrini, Simona Helbig, Katherine L Altuzarra, Cecilia Desmettre Chatron, Nicolas Kaiwar, Charu Stöhr, Katharina Widdess-Walsh, Peter Mendelsohn, Bryce A Numis, Adam Cilio, Maria-Roberta[UCL] Van Paesschen, Wim Svendsen, Lene L Oates, Stephanie Hughes, Elaine Goyal, Sushma Brown, Kathleen Sifuentes Saenz, Margarita Dorn, Thomas Muhle, Hiltrud Pagnamenta, Alistair T Vavoulis, Dimitris V Knight, Samantha J L Taylor, Jenny C Canevini, Maria Paola Darra, Francesca Gavrilova, Ralitza H Powis, Zöe Tang, Shan Marquetand, Justus Armstrong, Martin McHale, Duncan Klee, Eric W Kluger, Gerhard J Lowenstein, Daniel H Weckhuysen, Sarah Pal, Deb K Helbig, Ingo Guerrini, Renzo Thomas, Rhys H Rees, Mark I Lesca, Gaetan Sisodiya, Sanjay M Weber, Yvonne G Lal, Dennis Marini, Carla Lerche, Holger Schubert, Julian (2019) Neurology — Vol. 92, no.11, p. e1238-e1249 (2019)
    • Article de périodique
    Autism and developmental disability caused by KCNQ3 gain-of-function variants.
    Sands, Tristan T Miceli, Francesco Lesca, Gaetan Beck, Anita E Sadleir, Lynette G Arrington, Daniel K Schönewolf-Greulich, Bitten Moutton, Sébastien Lauritano, Anna Nappi, Piera Soldovieri, Maria Virginia Scheffer, Ingrid E Mefford, Heather C Stong, Nicholas Heinzen, Erin L Goldstein, David B Perez, Ana Grijalvo Kossoff, Eric H Stocco, Amber Sullivan, Jennifer A Shashi, Vandana Gerard, Benedicte Francannet, Christine Bisgaard, Anne-Marie Tümer, Zeynep Willems, Marjolaine Rivier, François Vitobello, Antonio Thakkar, Kavita Rajan, Deepa S Barkovich, A James Weckhuysen, Sarah Cooper, Edward C Taglialatela, Maurizio Cilio, Maria-Roberta[UCL] (2019) Annals of neurology — Vol. 86, no.2, p. 181-192 (2019)
    • Article de périodique
    Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update.
    Boon, Paul Ferrao Santos, Susana[UCL] Jansen, Anna C Lagae, Lieven Legros, Benjamin Weckhuysen, Sarah (2021) Acta neurologica Belgica — Vol. 121, no. 1, p. 241-257 (2021)
    • Article de périodique
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Article de périodique
    Genotype-phenotype correlations in patients with de novo pathogenic variants.
    Malerba, Federica Alberini, Giulio Balagura, Ganna Marchese, Francesca Amadori, Elisabetta Riva, Antonella Vari, Maria Stella Gennaro, Elena Madia, Francesca Salpietro, Vincenzo Angriman, Marco Giordano, Lucio Accorsi, Patrizia Trivisano, Marina Specchio, Nicola Russo, Angelo Gobbi, Giuseppe Raviglione, Federico Pisano, Tiziana Marini, Carla Mancardi, Maria M Nobili, Lino Freri, Elena Castellotti, Barbara Capovilla, Giuseppe Coppola, Antonietta Verrotti, Alberto Martelli, Paola Miceli, Francesco Maragliano, Luca Benfenati, Fabio Cilio, Maria-Roberta[UCL] Johannesen, Kathrine M Møller, Rikke S Ceulemans, Berten Minetti, Carlo Weckhuysen, Sarah Zara, Federico Taglialatela, Maurizio Striano, Pasquale (2020) Neurology. Genetics — Vol. 6, no.6, p. e528 [1-7] (2020)
    • Article de périodique
    Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
    Palmer, Elizabeth E Pusch, Michael Picollo, Alessandra Forwood, Caitlin Nguyen, Matthew H Suckow, Vanessa Gibbons, Jessica Hoff, Alva Sigfrid, Lisa Megarbane, Andre Nizon, Mathilde Cogné, Benjamin Beneteau, Claire Alkuraya, Fowzan S Chedrawi, Aziza Hashem, Mais O Stamberger, Hannah Weckhuysen, Sarah Vanlander, Arnaud Ceulemans, Berten Rajagopalan, Sulekha Nunn, Kenneth Arpin, Stéphanie Raynaud, Martine Motter, Constance S Ward-Melver, Catherine Janssens, Katrien Meuwissen, Marije Beysen, Diane Dikow, Nicola Grimmel, Mona Haack, Tobias B Clement, Emma McTague, Amy Hunt, David Townshend, Sharron Ward, Michelle Richards, Linda J Simons, Cas Costain, Gregory Dupuis, Lucie Mendoza-Londono, Roberto Dudding-Byth, Tracy Boyle, Jackie Saunders, Carol Fleming, Emily El Chehadeh, Salima Spitz, Marie-Aude Piton, Amelie Gerard, Bénédicte Abi Warde, Marie-Thérèse Rea, Gillian McKenna, Caoimhe Douzgou, Sofia Banka, Siddharth Akman, Cigdem Bain, Jennifer M Sands, Tristan T Wilson, Golder N Silvertooth, Erin J Miller, Lauren Lederer, Damien Sachdev, Rani Macintosh, Rebecca Monestier, Olivier Karadurmus, Deniz Collins, Felicity Carter, Melissa Rohena, Luis Willemsen, Marjolein H Ockeloen, Charlotte W Pfundt, Rolph Kroft, Sanne D Field, Michael Laranjeira, Francisco E R Fortuna, Ana M Soares, Ana R Michaud, Vincent Naudion, Sophie Golla, Sailaja Weaver, David D Bird, Lynne M Friedman, Jennifer Clowes, Virginia Joss, Shelagh Pölsler, Laura Campeau, Philippe M Blazo, Maria Bijlsma, Emilia K Rosenfeld, Jill A Beetz, Christian Powis, Zöe McWalter, Kirsty Brandt, Tracy Torti, Erin Mathot, Mikaël[UCL] Mohammad, Shekeeb S Armstrong, Ruth Kalscheuer, Vera M (2023) Molecular psychiatry — Vol. 28, no. 2, p. 668-697 (2023)
    • Article de périodique
    Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers
    Weckhuysen, Sarah Holmgren, Philip Hendrickx, Rik Jansen, Anna C Hasaerts, Daniele Dielman, Charlotte de Bellescize, Julitta Boutry-Kryza, Nadia Lesca, Gaetan Von Spiczak, Sarah Helbig, Ingo Gill, Deepak Yendle, Simone Møller, Rikke S Klitten, Laura Korff, Christian Godfraind, Catherine[UCL] Van Rijckevorsel , Kenou[UCL] De Jonghe, Peter Hjalgrim, Helle Scheffer, Ingrid E Suls, Arvid (2013) Epilepsia — Vol. 54, no.5, p. e74-e80 (2013)
    • Article de périodique
    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
    Panagiotakaki, Eleni De Grandis, Elisa Stagnaro, Michela Heinzen, Erin L Fons, Carmen Sisodiya, Sanjay de Vries, Boukje Goubau, Christophe[UCL] Weckhuysen, Sarah Kemlink, David Scheffer, Ingrid Lesca, Gaëtan Rabilloud, Muriel Klich, Amna Ramirez-Camacho, Alia Ulate-Campos, Adriana Campistol, Jaume Giannotta, Melania Moutard, Marie-Laure Doummar, Diane Hubsch-Bonneaud, Cecile Jaffer, Fatima Cross, Helen Gurrieri, Fiorella Tiziano, Danilo Nevsimalova, Sona Nicole, Sophie Neville, Brian van den Maagdenberg, Arn M J M Mikati, Mohamad Goldstein, David B Vavassori, Rosaria Arzimanoglou, Alexis Italian IBAHC Consortium French AHC Consortium International AHC Consortium (2015) Orphanet Journal of Rare Diseases — Vol. 10, no. 1, p. 123 [1-13] (2015)
    • Article de périodique
    Clinical and Neurophysiologic Phenotypes in Neonates With Encephalopathy.
    Carapancea, Evelina[UCL] Cornet, Marie-Coralie Milh, Mathieu De Cosmo, Lucrezia Huang, Eric J Granata, Tiziana Striano, Pasquale Ceulemans, Berten Stein, Anja Morris-Rosendahl, Deborah Conti, Greta Mitra, Nipa Raymond, F Lucy Rowitch, David H Solazzi, Roberta Vercellino, Fabiana De Liso, Paola D'Onofrio, Gianluca Boniver, Clementina Danhaive, Olivier[UCL] Carkeek, Katherine[UCL] Salpietro, Vincenzo Weckhuysen, Sarah Fedrigo, Marny Angelini, Annalisa Castellotti, Barbara Lederer, Damien Benoit, Valerie Raviglione, Federico Guerrini, Renzo Dilena, Robertino Cilio, Maria-Roberta[UCL] (2023) Neurology — Vol. 100, no.12, p. e1234-e1247 (2023)