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Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies Larasati, Yonika A.; Solis, Gonzalo P.; Koval, Alexey; Francois-Heude, Marie-Celine; Piarroux, Julie; Roubertie, Agathe; Yang, Ruihan; Zhang, Ying; Cao, Dezhi; Korff, Christian M. Share Save
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Molecular and Phenotypic Characterization of the RORB-Related Disorder Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan Share Save
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R Larasati, Yonika A.; Solis, Gonzalo P.; Koval, Alexey; Griffiths, Silja T.; Berentsen, Ragnhild; Aukrust, Ingvild; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothee; Korff, Christian M.; Katanaev, Vladimir L. Share Save
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M.; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A.; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; Krijtova, Hana; Leffner, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; Ruggiero, Sarah McKeown; Mochel, Fanny; Ramond, Francis; Reif, Philipp S.; Richard-Mornas, Aurelie; Rosenow, Felix; Schropp, Christian; Thomas, Rhys H.; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Scheffer, Ingrid E.; Striano, Pasquale; Moller, Rikke S.; Gardella, Elena; Weckhuysen, Sarah Share Save
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms Blanchard-Rohner, Geraldine; Peirolo, Anna; Coulon, Ludivine; Korff, Christian; Horvath, Judit; Burkhard, Pierre R.; Gumy-Pause, Fabienne; Ranza, Emmanuelle; Jandus, Peter; Dibra, Harpreet; Taylor, Alexander Malcolm R.; Fluss, Joel Share Save
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study Bayat, Allan; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Korff, Christian M.; Thomas, Ashley; Bosselmann, Christian; Weber, Yvonne; Gardella, Elena; Lund, Allan M.; de Sain-van der Velden, Monique G. M.; Moller, Rikke S. Share Save
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. Share Save
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy Datta, Alexandre N.; Bahi-Buisson, Nadia; Bienvenu, Thierry; Buerki, Sarah E.; Gardiner, Fiona; Cross, J. Helen; Heron, Benedicte; Kaminska, Anna; Korff, Christian M.; Lepine, Anne; Lesca, Gaetan; McTague, Amy; Mefford, Heather C.; Mignot, Cyrill; Milh, Matthieu; Piton, Amelie; Pressler, Ronit M.; Ruf, Susanne; Sadleir, Lynette G.; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E.; Ville, Dorothee; Villeneuve, Nathalie; Zacher, Pia; Scheffer, Ingrid E.; Lemke, Johannes R. Share Save
Lessons learned from 40 novel PIGA patients and a review of the literature Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Cecile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R.; Korff, Christian M.; Hansen, Johanne Kragh; Larsen, Martin; Layet, Valerie; Lesca, Gaetan; McBride, Kim L.; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H.; Skinner, Steven; Szczaluba, Krzysztol; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A.; Lal, Dennis; Gardella, Elena; Ousager, Lilian Bomme; Bruenger, Tobias; Helbig, Ingo; Krawitz, Peter; Moller, Rikke S. Share Save
Modulation of epileptic networks by transient interictal epileptic activity: A dynamic approach to simultaneous EEG-fMRI Iannotti, G. R.; Preti, M. G.; Grouiller, F.; Carboni, M.; De Stefano, P.; Pittau, F.; Momjian, S.; Carmichael, D.; Centeno, M.; Seeck, M.; Korff, C. M.; Schaller, K.; Van De Ville, D.; Vulliemoz, S. Share Save
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The spectrum of intermediate SCN8A-related epilepsy Johannesen, Katrine M.; Gardena, Elena; Encinas, Alejandra C.; Lehesjoki, Anna-Enna; Linnankivi, Tarja; Petersen, Michael B.; Lund, Ida Charlotte Bay; Blichfeldt, Susanne; Miranda, Maria J.; Pal, Deb K.; Lascelles, Karine; Procopis, Peter; Orsini, Alessandro; Bonuccelli, Alice; Giacomini, Thea; Helbig, Ingo; Fenger, Christina D.; Sisodiya, Sanjay M.; Hernandez-Hernandez, Laura; Krithika, Sundararaman; Rumple, Melissa; Masnada, Silvia; Valente, Marialuisa; Cereda, Cristina; Giordano, Lucio; Accorsi, Patrizia; Burki, Sarah; Mancardi, Margherita; Korff, Christian; Guerrini, Renzo; von Spiczak, Sarah; Hoffman-Zacharska, Dorota; Mazurczak, Tomasz; Coppola, Antonietta; Buono, Salvatore; Vecchi, Marilena; Hammer, Michael F.; Varesio, Costanza; Veggiotti, Pierangelo; Lal, Dennis; Bruenger, Tobias; Zara, Federico; Striano, Pasquale; Rohholi, Guido; Moller, Rikke S. Share Save
NBEA: Developmental disease gene with early generalized epilepsy phenotypes Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez-Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolette; Hoffer, Mariette J. V.; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; Craiu, Dana; Lemke, Johannes R.; Korff, Christian; Mefford, Heather C.; Meyers, Candace T.; Siegler, Zsuzsanna; Hiatt, Susan M.; Cooper, Gregory M.; Bebin, E. Martina; Snijders Blok, Lot; Veenstra-Knol, Hermine E.; Baugh, Evan H.; Brilstra, Eva H.; Volker-Touw, Catharina M. L.; van Binsbergen, Ellen; Revah-Politi, Anya; Pereira, Elaine; McBrian, Danielle; Pacault, Mathilde; Isidor, Bertrand; Le Caignec, Cedric; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Heinzen, Erin L.; Goldstein, David B.; Stevens, Servi J. C.; Sands, Tristan T. Share Save
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jaeger, Marten; Koehler, Sebastian; Muhle, Hiltrud; Korff, Christian; Moller, Rikke S.; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Juergen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endziniene, Milda; Kortuem, Fanny; Brown, Natasha; Robinson, Peter N.; Schelhaas, Helenius J.; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M. Share Save
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report Kurian, Mary; Korff, Christian M.; Ranza, Emmanuelle; Bernasconi, Andrea; Luebbig, Anja; Nangia, Srishti; Ramelli, Gian Paolo; Wohlrab, Gabriele; Nordli, Douglas R., Jr.; Bast, Thomas Share Save
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies Masnada, Silvia; Hedrich, Ulrike B. S.; Gardella, Elena; Schubert, Julian; Kaiwar, Charu; Klee, Eric W.; Lanpher, Brendan C.; Gavrilova, Ralitza H.; Synofzik, Matthis; Bast, Thomas; Gorman, Kathleen; King, Mary D.; Allen, Nicholas M.; Conroy, Judith; Ben Zeev, Bruria; Tzadok, Michal; Korff, Christian; Dubois, Fanny; Ramsey, Keri; Narayanan, Vinodh; Serratosa, Jose M.; Giraldez, Beatriz G.; Helbig, Ingo; Marsh, Eric; O'Brien, Margaret; Bergqvist, Christina A.; Binelli, Adrian; Porter, Brenda; Zaeyen, Eduardo; Horovitz, Dafne D.; Wolff, Markus; Marjanovic, Dragan; Caglayan, Hande S.; Arslan, Mutluay; Pena, Sergio D. J.; Sisodiya, Sanjay M.; Balestrini, Simona; Syrbe, Steffen; Veggiotti, Pierangelo; Lemke, Johannes R.; Moller, Rikke S.; Lerche, Holger; Rubboli, Guido Share Save
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