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Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes Thormeyer, V.; Meyer, Z.; Polster, T.; Borggraefe, I.; Wallacher, B.; Korenke, G. C.; Catenoix, H.; Panagiotakaki, E.; Wolff, M.; Kluger, G.; Hartlieb, T.; Anke, B.; Leiz, S.; Abou Jamra, R.; Lesca, G.; Kaindl, A.; Schwarz, J. M.; Strehlow, V.; Stoeva, R.; Garde, A.; Faivre, L.; Racine, C.; Schlump, J. U.; Zacher, P.; Latour, P.; Panzer, A. Share Save
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Genome Sequencing for Diagnosing Rare Diseases Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase Jones, Amy G.; Aquilino, Matilde; Tinker, Rory J.; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L.; Deward, Stephanie J.; Grange, Dorothy K.; Hajianpour, Mj; Halliday, Benjamin J.; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I.; Polster, Tilman; Spano, Alice; Gomez-Lozano, Ines; Kumar, Abhishek; Poke, Gemma; Phillips, John A.; Underhill, Hunter R.; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P. Share Save
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly Herbst, Charlotte; Bothe, Viktoria; Wegler, Meret; Axer-Schaefer, Susanne; Audebert-Bellanger, Severine; Gecz, Jozef; Cogne, Benjamin; Feldman, Hagit Baris; Horn, Anselm H. C.; Hurst, Anna C. E.; Kelly, Melissa A.; Kruer, Michael C.; Kurolap, Alina; Laquerriere, Annie; Li, Megan; Mark, Paul R.; Morawski, Markus; Nizon, Mathilde; Pastinen, Tomi; Polster, Tilman; Saugier-Veber, Pascale; SeSong, Jang; Sticht, Heinrich; Stieler, Jens T.; Thifffault, Isabelle; van Eyk, Clare L.; Marcorelles, Pascale; Vezain-Mouchard, Myriam; Abou Jamra, Rami; Oppermann, Henry Share Save
Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany Maltseva, Margarita; Rosenow, Felix; Schubert-Bast, Susanne; Flege, Silke; Wolff, Markus; von Spiczak, Sarah; Trollmann, Regina; Syrbe, Steffen; Ruf, Susanne; Polster, Tilman; Neubauer, Bernd A.; Mayer, Thomas; Jacobs, Julia; Kurlemann, Gerhard; Kluger, Gerhard; Klotz, Kerstin A.; Kieslich, Matthias; Kay, Lara; Hornemann, Frauke; Bettendorf, Ulrich; Bertsche, Astrid; Bast, Thomas; Strzelczyk, Adam Share Save
GABRA1-Related Disorders: From Genetic to Functional Pathways Musto, Elisa; Liao, Vivian W. Y.; Johannesen, Katrine M.; Fenger, Christina D.; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I.; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M.; Fazeli, Walid; Wouters, Leen; Miranda, Maria J.; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Kury, Sebastien; Proietti, Jacopo; Mcsweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Moller, Rikke S.; Ahring, Philip K.; Gardella, Elena Share Save
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial Sullivan, Joseph; Lagae, Lieven; Cross, J. Helen; Devinsky, Orrin; Guerrini, Renzo G.; Knupp, Kelly; Laux, Linda; Nikanorova, Marina; Polster, Tilman; Talwar, Dinesh; Ceulemans, Berten; Nabbout, Rima M.; Farfel, Gail S.; Galer, Bradley R.; Gammaitoni, Arnold; Lock, Michael; Agarwal, Anupam E.; Scheffer, Ingrid; FAiRE DS Study Grp Share Save
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Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany Maltseva, Margarita; Schubert-Bast, Susanne; Zoellner, Johann Philipp; Bast, Thomas; Mayer, Thomas; von Spiczak, Sarah; Ruf, Susanne; Trollmann, Regina; Wolff, Markus; Hornemann, Frauke; Klotz, Kerstin A.; Jacobs, Julia; Kurlemann, Gerhard; Neubauer, Bernd A.; Polster, Tilman; Syrbe, Steffen; Bertsche, Astrid; Bettendorf, Ulrich; Kluger, Gerhard; Flege, Silke; Rosenow, Felix; Kay, Lara; Strzelczyk, Adam Share Save
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Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene Barba, Carmen; Blumcke, Ingmar; Winawer, Melodie R.; Hartlieb, Till; Kang, Hoon-Chul; Grisotto, Laura; Chipaux, Mathilde; Bien, Christian G.; Hermanovska, Barbora; Porter, Brenda E.; Lidov, Hart G. W.; Cetica, Valentina; Woermann, Friedrich G.; Lopez-Rivera, Javier A.; Canoll, Peter D.; Mader, Irina; D'Incerti, Ludovico; Baldassari, Sara; Yang, Edward; Gaballa, Ahmed; Vogel, Hannes; Straka, Barbora; Macconi, Letizia; Polster, Tilman; Grant, Gerald A.; Krskova, Lenka; Shin, Hui Jin; Ko, Ara; Crino, Peter B.; Krsek, Pavel; Lee, Jeong Ho; Lal, Dennis; Baulac, Stephanie; Poduri, Annapurna; Guerrini, Renzo Share Save
Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome Strzelczyk, Adam; Kurlemann, Gerhard; Bast, Thomas; Bettendorf, Ulrich; Kluger, Gerhard; Mayer, Thomas; Neubauer, Bernd A.; Polster, Tilman; von Spiczak, Sarah; Trollmann, Regina; Wolff, Markus; Toward, Toby; Gruenert, Jens; Gibson, Eddie; Pritchard, Clive; Carroll, Joe; Rosenow, Felix; Schubert-Bast, Susanne Share Save
DNA methylation-based classification of malformations of cortical development in the human brain Jabari, Samir; Kobow, Katja; Pieper, Tom; Hartlieb, Till; Kudernatsch, Manfred; Polster, Tilman; Bien, Christian G.; Kalbhenn, Thilo; Simon, Matthias; Hamer, Hajo; Roessler, Karl; Feucht, Martha; Muehlebner, Angelika; Najm, Imad; Peixoto-Santos, Jose Eduardo; Gil-Nagel, Antonio; Delgado, Rafael Toledano; Aledo-Serrano, Angel; Hou, Yanghao; Coras, Roland; von Deimling, Andreas; Bluemcke, Ingmar Share Save
Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3 Franz, David N.; Lawson, John A.; Yapici, Zuhal; Ikeda, Hiroko; Polster, Tilman; Nabbout, Rima; Curatolo, Paolo; Vries, Petrus J.; Dlugos, Dennis J.; Herbst, Fabian; Peyrard, Severine; Pelov, Diana; French, Jacqueline A. Share Save
Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany Strzelczyk, Adam; Pringsheim, Milka; Mayer, Thomas; Polster, Tilman; Klotz, Kerstin A.; Muhle, Hiltrud; Alber, Michael; Trollmann, Regina; Spors, Hartwig; Kluger, Gerhard; Kurlemann, Gerhard; Schubert-Bast, Susanne Share Save
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