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SaveStretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo Share Save Perampanel as precision therapy in rare genetic epilepsiesNissenkorn, Andreea; Kluger, Gerhard; Schubert-Bast, Susanne; Bayat, Allan; Bobylova, Marya; Bonanni, Paolo; Ceulemans, Berten; Coppola, Antonietta; Di Bonaventura, Carlo; Feucht, Martha; Fuchs, Anne; Groeppel, Gudrun; Heimer, Gali; Herdt, Brigitte; Kulikova, Sviatlana; Mukhin, Konstantin; Nicassio, Stefania; Orsini, Alessandro; Panagiotou, Maria; Pringsheim, Milka; Puest, Burkhard; Pylaeva, Olga; Ramantani, Georgia; Tsekoura, Maria; Ricciardelli, Paolo; Lerman Sagie, Tally; Stark, Brigit; Striano, Pasquale; van Baalen, Andreas; De Wachter, Matthias; Cerulli Irelli, Emanuele; Cuccurullo, Claudia; von Stuelpnagel, Celina; Russo, Angelo Share Save Share Save Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencyWortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stuelpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A. Share Save Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Jun, 10.1038/s41436-021-01194-x, 2021)Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stulpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A. Share Save Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescentsMoorhouse, Frederik Jan; Cornell, Sonia; Gerstl, Lucia; Tacke, Moritz; Roser, Timo; Heinen, Florian; Bonfert, Michaela; von Stuelpnagel, Celina; Wagner, Matias; Borggraefe, Ingo Share Save The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodDoering, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggraefe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjorg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kuehne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; von Stuelpnagel, Celina; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Koelker, Stefan; Syrbe, Steffen Share Save Share Save Share Save Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyMignot, Cyril; von Stuelpnagel, Celina; Nava, Caroline; Ville, Dorothee; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnes; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yis, Uluc; Caglayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, Andre; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hoertnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Heron, Delphine; Kluger, Gerhard; Depienne, Christel Share Save Share Save 
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