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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models Clara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD Share Save
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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity Tessarech, Marine; Friocourt, Gaelle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Diaz, Rodrigo Munoz; Mignot, Cyril; Keren, Boris; Heron, Benedicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Abou Jamra, Rami; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnes; Bris, Celine; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle Share Save
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Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series Riquin, Elise; Barth, Magalie; Le Nerze, Thomas; Pasquini, Natwin; Prouteau, Clement; Colin, Estelle; Amati Bonneau, Patrizia; Procaccio, Vincent; Van Bogaert, Patrick; Duverger, Philippe; Bonneau, Dominique; Roy, Arnaud Share Save
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy Macha, Arthur; Liebsch, Filip; Fricke, Steffen; Hetsch, Florian; Neuser, Franziska; Johannes, Lena; Kress, Vanessa; Djemie, Tania; Santamaria-Araujo, Jose A.; Vilain, Catheline; Aeby, Alec; Van Bogaert, Patrick; Dejanovic, Borislav; Weckhuysen, Sarah; Meier, Jochen C.; Schwarz, Guenter Share Save
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Abou Jamra, Rami; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frederic; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Bjorn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christele; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey; Au, Ping Yee Billie; Shashi, Vandana Share Save
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Jun, 10.1038/s41436-021-01232-8, 2021) Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frederic; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Bjorn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christele; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S.; Au, Ping Yee Billie; Shashi, Vandana Share Save
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series Riquin, Elise; Le Nerze, Thomas; Pasquini, Natwin; Barth, Magalie; Prouteau, Clement; Colin, Estelle; Amati Bonneau, Patrizia; Procaccio, Vincent; Van Bogaert, Patrick; Duverger, Philippe; Bonneau, Dominique; Roy, Arnaud Share Save
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From congenial paralysis to post-early brain injury developmental condition: Where does cerebral palsy actually stand? Chabrier, Stephane; Pouyfaucon, Margaux; Chatelin, Alain; Bleyenheuft, Yannick; Fluss, Joel; Gautheron, Vincent; Newman, Christopher J.; Sebire, Guillaume; Van Bogaert, Patrick; Vuillerot, Carole; Brochard, Sylvain; Dinomais, Mickael Share Save
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP Kuchenbuch, Mathieu; Barcia, Giulia; Chemaly, Nicole; Carme, Emilie; Roubertie, Agathe; Gibaud, Marc; Van Bogaert, Patrick; de Saint Martin, Anne; Hirsch, Edouard; Dubois, Fanny; Sarret, Catherine; Tich, Sylvie Nguyen The; Laroche, Cecile; des Portes, Vincent; de Villemeur, Thierry Billette; Barthez, Marie-Anne; Auvin, Stephane; Bahi-Buisson, Nadia; Desguerre, Isabelle; Kaminska, Anna; Benquet, Pascal; Nabbout, Rima Share Save
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