학술논문
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'학술논문'
에서 검색결과 233건 | 목록
1~20
Academic Journal
Feng, Yen-Chen Anne; Howrigan, Daniel P; Abbott, Liam E; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L; Dhindsa, Ryan S; Stanley, Kate E; Cavalleri, Gianpiero L; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M; Cossette, Patrick; Cotsapas, Chris; DeJonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J; Scheffer, Ingrid E; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M; Bellows, Susannah T; Leu, Costin; Bennett, Caitlin A; Johns, Esther M C; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M; Sadoway, Tara R; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S; Kousiappa, Ioanna; Tanteles, George A; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S; Knake, Susanne; Kunz, Wolfram S; Zsurka, Gábor; Elger, Christian E; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; vanBaalen, Andreas; vonSpiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R; Krey, Ilona; Weber, Yvonne G; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F; Steinhoff, Bernhard J; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert; Borggräfe, Ingo; Schankin, Christoph J; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark I; Chung, Seo-Kyung; Pickrell, William O; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R; Auce, Pauls; Sills, Graeme J; Baum, Larry W; Sham, Pak C; Cherny, Stacey S; Lui, Colin H T; Barišić, Nina; Delanty, Norman; Doherty, Colin P; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G; King, Chontelle; Mountier, Emily; Caglayan, Hande S; Arslan, Mutluay; Yapıcı, Zuhal; Yis, Uluc; Topaloglu, Pınar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Poduri, Annapurna; Shiedley, Beth R; Shain, Catherine; Buono, Russell J; Ferraro, Thomas N; Sperling, Michael R; Lo, Warren; Privitera, Michael; French, Jacqueline A; Schachter, Steven; Kuzniecky, Ruben I; Devinsky, Orrin; Hegde, Manu; Khankhanian, Pouya; Helbig, Katherine L; Ellis, Colin A; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; Pato, Michele T; Pato, Carlos N; Bromet, Evelyn J; Carvalho, Celia Barreto; Achtyes, Eric D; Azevedo, Maria Helena; Kotov, Roman; Lehrer, Douglas S; Malaspina, Dolores; Marder, Stephen R; Medeiros, Helena; Morley, Christopher P; Perkins, Diana O; Sobell, Janet L; Buckley, Peter F; Macciardi, Fabio; Rapaport, Mark H; Knowles, James A; Cohort, Genomic Psychiatry; Fanous, Ayman H; McCarroll, Steven A; Gupta, Namrata; Gabriel, Stacey B; Daly, Mark J; Lander, Eric S; Lowenstein, Daniel H; Goldstein, David B; Lerche, Holger; Berkovic, Samuel F; Neale, Benjamin M; Koko, Mahmoud ; Sander, Thomas ; Bobbili, Dheeraj Reddy ; Nothnagel, Michael
In eBioMedicine October 2021 72
Academic Journal
Mütze, Ulrike ; Bürger, Friederike ; Hoffmann, Jessica ; Tegetmeyer, Helmut ; Heichel, Jens ; Nickel, Petra ; Lemke, Johannes R ; Syrbe, Steffen ; Beblo, Skadi
In Molecular Genetics and Metabolism Reports March 2017 10:1-4
Academic Journal
Montanucci, Ludovica; Brünger, Tobias; Bhattarai, Nisha; Boßelmann, Christian M; Kim, Sukhan; Allen, James P; Zhang, Jing; Klöckner, Chiara; Krey, Ilona; Fariselli, Piero; May, Patrick; Lemke, Johannes R; Myers, Scott J; Yuan, Hongjie; Traynelis, Stephen F; Lal, Dennis
Human Molecular Genetics; 1/15/2025, Vol. 34 Issue 2, p128-139, 12p
Academic Journal
Erfanian Omidvar, Maryam; Murrell, Jill R; Prentice, Anna J; Helbig, Ingo; Lerche, Holger; May, Patrick; null, null; Chen, Siwei; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Andrade, Danielle M; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Buono, Russell J; Busch, Robyn M; Canafoglia, Laura; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chou, I-Jun; Chung, Seo-Kyung; Cole, Andrew J; Cossette, Patrick; Cotsapas, Chris; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J; Doccini, Viola; Ellis, Colin; Epstein, Leon; Evans, Meghan; Faucon, Annika; Ferguson, Lisa; Ferraro, Thomas N; Feucht, Martha; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A; Freri, Elena; Gagliardi, Monica; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Guerrini, Renzo; Haas, Kevin; Heinzen, Erin L; Heyne, Henrike; Hoeper, Olivia; Inuzuka, Luciana Midori; Jehi, Lara; Kälviäinen, Reetta; Kariuki, Symon M; Khoury, Jean; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Kurlemann, Gerhard; Labate, Angelo; Lacey, Austin; Lawthom, Charlotte; Leech, Stephanie L; Lemke, Johannes R; Lesca, Gaetan; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Licchetta, Laura; Lowenstein, Daniel H; Madia, Francesca; Magri, Stefania; McGraw, Christopher M; Mei, Davide; Millichap, John J; Minardi, Raffaella; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Nasreddine, Wassim; Neubauer, Bernd A; Newton, Charles R J C; O'Brien, Terence J; Özkara, Çiğdem; Papacostas, Savvas S; Parrini, Elena; Pendziwiat, Manuela; Pickrell, William O; Pinto, Dalila; Poduri, Annapurna; Ragona, Francesca; Rees, Mark I; Rheims, Sylvain; Riva, Antonella; Rojas, Enrique; Sammarra, Ilaria; Schankin, Christoph J; Scheffer, Ingrid E; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R; Sisodiya, Sanjay M; Sparks, Kathryn R; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Tanteles, George A; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Utkus, Algirdas; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Wagner, Ryan G; Weber, Yvonne G; Weckhuysen, Sarah; Wiebe, Samuel; Wolking, Stefan; von Wrede, Randi; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F
Brain.
Academic Journal
Götze, Katharina J; Mrestani, Achmed; Beckmann, Paula; Krohn, Knut; Duc, Diana Le; Velluva, Akhil; Böhme, Mathias A; Heckmann, Manfred; Jamra, Rami Abou; Lemke, Johannes R; Bläker, Hendrik; Scholz, Nicole; Ljaschenko, Dmitrij; Langenhan, Tobias
Academic Journal
Brünger T; Krey I; Kim S; Klöckner C; Myers SJ; Johannesen KM; Stefanski A; Taylor G; Perez-Palma E; Macnee M; Schorge S; Dahl RS; Yuan H; Perszyk RE; Kim S; Bajaj S; Helbig I; Pan JQ; Farrant M; Wollmuth L; Wyllie DJA; Kurganov E; Baez D; Zuberi S; Boßelmann CM; Lerche H; Mantegazza M; Cestèle S; May P; Ivaniuk A; Meskis MA; Hood V; Schust L; Goodspeed K; Kang JQ; Freed A; Gati C; Montanucci L; Wuster A; Trinidad M; Froelich S; Deng AT; Aledo-Serrano Á; Borovikov A; Sharkov A; Bouman A; Hajianpour MJ; Pal DK; Danvoye L; Lederer D; Balci TR; Hagebeuk EEO; Heidlebaugh A; Oetjens K; Hoffman TL; Striano P; Williams SD; van Engelen K; Howell KB; Khoury J; Benke TA; Strehlow V; Platzer K; Ramsey A; Manaster L; Malepati S; Fox P; Noebels J; Chung W; Poduri A; Stripe LL; Ruggiero SM; Cohen S; Smith L; Boesch S; Wilmarth O; Prentice AJ; Cha E; Budnik N; Hommersom MP; Kramer A; Vanoye CG; Zhang GQ; Nothnagel M; Palotie A; Daly MJ; George AL; Zarate YA; Brunklaus A; Traynelis SF; Møller RS; Lemke JR; Lal D
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. johannes.lemke@medizin.uni-leipzig.de.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany. johannes.lemke@medizin.uni-leipzig.de.; Eoli A; Hasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam, Germany.; Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Wittekind DA; Department of Psychiatry and Psychotherapy, University of Leipzig Medical Center, Leipzig, Germany.; Institue for Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig Medical Center, Leipzig, Germany.; Vuorinen AL; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Faculty of Social Sciences, Unit of Health Sciences, Tampere University, Tampere, Finland.; Aldhalaan HM; Department of Neuroscience Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Baer S; Department of Pediatric Neurology, University Hospitals of Strasbourg, Strasbourg, France.; de Saint Martin A; Department of Pediatric Neurology, University Hospitals of Strasbourg, Strasbourg, France.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Hornemann F; Department of Pediatrics, Klinikum Chemnitz, Chemnitz, Germany.; Ingebrigtsen T; National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et Génétique (IPG), Charleroi (Gosselies), Belgium.; Lesca G; Department of Medical Genetics, University Hospital of Lyon, Claude Bernard University Lyon 1, Lyon, France.; Marafie D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Mathot M; Neuropediatric Unit, CHU UCL-Namur, Namur, Belgium.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Schelhaas HJ; Department of Neurology, Stichting Epilepsie Instellingen Nederland, SEIN, Zwolle, The Netherlands.; Stillman C; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA.; Orsini A; Section of Pediatric Neurology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Patel AD; Division of Pediatric Neurology, Nationwide Children's Hospital, Department of Pediatrics, The Ohio State College of Medicine, Columbus, OH, USA.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.; UMR 1231 GAD, Inserm, Université de Bourgogne, Dijon, France.; Veggiotti P; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.; Vlaskamp DRM; Department of Genetics and Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.; Weckhuysen S; VIB-Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.; Center for the Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Benke TA; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA.; Heyne HO; Hasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam, Germany. Henrike.Heyne@hpi.de.; Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Henrike.Heyne@hpi.de.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland. Henrike.Heyne@hpi.de.; Syrbe S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Clinic 1, Division of Pediatric Epileptology, Heidelberg, Germany.
Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE; In Process
Academic Journal
Ortiz S; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Affronte L; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Child Neuropsychiatry, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Bagliani C; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS, Istituto Giannina Gaslini, Full Member of the European Reference Network EpiCARE, Genoa, Italy.; El-Kamand S; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Kan ASH; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Kristoffersen IT; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Dahl RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Højte AF; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Auvin S; INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, AP-HP, Hôpital Robert-Debré, Member of European Reference Network EpiCARE, Université de Paris, Paris, France.; Bouman A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Kluger G; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen-Clinic, Vogtareuth, Germany.; Children's Hospital Salzburg, Research Institute 'Rehabilitation, Transition and Palliation' PMU Salzburg, Salzburg, Austria.; Lesca G; Genetics Department, Hospices Civils de Lyon, Member of ERN EpiCARE, Lyon, France.; Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.; Chatron N; Genetics Department, Hospices Civils de Lyon, Member of ERN EpiCARE, Lyon, France.; Goke-Samar Z; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hôpital Femme Mère Enfant, Member of ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.; Papadopoulou MT; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hôpital Femme Mère Enfant, Member of ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.; CNRS, INSERM, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, EDUWELL, Université Claude Bernard Lyon 1, Bron, France.; Terzi MAP; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hôpital Femme Mère Enfant, Member of ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.; Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Strasbourg, France.; de Saint Martin A; Department of Neuropediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute for Genetics and Molecular and Cellular Biology (IGBMC), CNRS UMR7104, INSERM U1258, University of Strasbourg, Illkirch, France.; French Reference Center for Rare Epilepsies (CréER), ERN EpiCARE, France.; Baer S; Department of Neuropediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute for Genetics and Molecular and Cellular Biology (IGBMC), CNRS UMR7104, INSERM U1258, University of Strasbourg, Illkirch, France.; Al Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Takroni S; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Al-Dhalaan H; Department of Neuroscience, Center for Autism Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Bonanni P; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute for Research, Hospitalization and Healthcare, IRCCS, E. Medea, IRCCS Eugenio Medea, Conegliano, Italy.; Rossi A; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute for Research, Hospitalization and Healthcare, IRCCS, E. Medea, IRCCS Eugenio Medea, Conegliano, Italy.; Zanotta N; Unit of Clinical Neurophysiology and Epilepsy Centre, IRCCS E. Medea, Lecco, Italy.; Trivisano M; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.; Specchio N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.; de Dominicis A; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, Full Member of the European Reference Network EpiCARE, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Orsini A; Pediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.; Mancardi MM; Unit of Child Neuropsychiatry, Full Member ERN EpiCARE, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Neuens S; Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Jennesson-Lyver M; Department of Pediatric Neurology, American Memorial Hospital, CHU Reims, Reims, France.; Benkel-Herrenbrueck I; Sana-Krankenhaus Düsseldorf-Gerresheim, Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Genevieve D; Department of Clinical Genetics, Inserm U1183, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs», University Hospital of Montpellier, Montpellier University, Montpellier, France.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA.; Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, California, USA.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Talvik I; Tallin Children's Hospital, Tallin, Estonia.; Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Braun KPJ; Department of Child Neurology and Neurosurgery, University Medical Center, Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, Normandie Univ, Rouen, France.; More R; Département de Pédiatrie Néonatale Réanimation Pédiatrique, Centre Hospitalier Universitaire de Rouen, Rouen, France.; De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Weckhuysen S; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; VIB Center for Molecular Neurology, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Carapancea E; Institute of Neuroscience, Université Catholique de Louvain, Brussels, Belgium.; Division of Pediatric Neurology, Department of Pediatrics, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium.; Cilio MR; Institute of Neuroscience, Université Catholique de Louvain, Brussels, Belgium.; Division of Pediatric Neurology, Department of Pediatrics, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium.; Jacobs J; Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Sterbova K; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic.; Balestrini S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Neuroscience Department, Meyer Children's Hospital, European Reference Network ERN EpiCARE, Florence, Italy.; Chalfont Centre for Epilepsy, London, UK.; Guerrini R; Neuroscience Department, Meyer Children's Hospital, European Reference Network ERN EpiCARE, Florence, Italy.; Child and Adolescent Psychiatry Unit, Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Peroni G; Neuroscience Department, Meyer Children's Hospital, European Reference Network ERN EpiCARE, Florence, Italy.; Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; ElNaggar W; Department of Pediatrics, Faculty of Medicine, Cairo University, Giza, Egypt.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Schmetz A; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Chan DL; Neurology Department, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.; Mirzaa GM; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Department of Laboratory Medicine and Pathology, University of Washington School of Medicine, Seattle, Washington, USA.; Chaumette B; INSERM U1266, Institute of Psychiatry and Neuroscience of Paris, Université Paris Cité, Paris, France.; Legrand A; GHU PARIS Psychiatrie et Neurosciences, Sainte-Anne Hospital, Paris, France.; McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Stödberg T; Division of Pediatric Neurology, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Section of Pediatric Neurology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.; Harris RV; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Berkovic SF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.; Chebib M; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia.; Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Ahring PK; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Absalom NL; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Science, Western Sydney University, Penrith, New South Wales, Australia.; Behaviour and Development, MARCS Institute for Brain, Westmead, New South Wales, Australia.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
Bundalian L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.; Institute for Clinical Genetics, Technische Universität Dresden, and National Cancer Center (NCT) Dresden, Dresden, Saxony 01307, Germany.; Strnadová MS; Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Saxony 04103, Germany.; Garten F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.; Horn S; Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Saxony 04103, Germany.; Stenzel U; Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Saxony 04103, Germany.; Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.; Biskup S; CeGaT GmbH, Tübingen, Baden-Württemberg 72076, Germany.; Schulte B; CeGaT GmbH, Tübingen, Baden-Württemberg 72076, Germany.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4365, Luxembourg.; Bösebeck F; Agaplesion Diakonie Clinic Rottenburg, Rottenburg, Lower Saxony 27356, Germany.; Garten A; Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Leipzig, Saxony 04103, Germany.; Thor D; Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Saxony 04103, Germany.; Schulz A; Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Saxony 04103, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.; Kelso J; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Saxony 04103, Germany.; Schöneberg T; Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, University of Leipzig, Leipzig, Saxony 04103, Germany.; School of Medicine, University of Global Health Equity, Kigali 6955, Rwanda.; Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Saxony 04103, Germany.; Institute for Clinical Genetics, Technische Universität Dresden, and National Cancer Center (NCT) Dresden, Dresden, Saxony 01307, Germany.; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Saxony 04103, Germany.; Center for Diagnostics GmbH, Department of Genetics, Chemnitz Clinics, Chemnitz, Saxony 09116, Germany.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101756213 Publication Model: eCollection Cited Medium: Internet ISSN: 2631-9268 (Electronic) Linking ISSN: 26319268 NLM ISO Abbreviation: NAR Genom Bioinform Subsets: MEDLINE
Academic Journal
Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Chimata AV; Department of Biology, University of Dayton, Dayton, OH, USA.; Rajan DS; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Schönnagel S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Stals KL; Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter EX2 5DW, UK.; Donnelly D; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.; O'Sullivan S; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.; Mantovani JF; Division of Child Neurology, Washington University School of Medicine, Mercy Kids Center for Neurodevelopment & Autism, St. Louis, MO 63110, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Zacher P; Epilepsy Center Kleinwachau, 01454 Radeberg, Germany.; Chatron N; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Monin P; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Drunat S; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Vial Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Latypova X; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Levy J; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Carter JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Shankar SP; Departments of Pediatrics & Ophthalmology, Genomic Medicine, University of California, Davis Health, Sacramento, CA 95817, USA.; Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Comi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Dyer LM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08854, USA.; Ben-Mahmoud A; Neurological Disorder Research Center, Qatar Biomedical Research Institute, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.; Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Department of Pediatrics, Duke University, Durham, NC, USA.; Belles RS; Geisinger Health System, Danville, PA 17821, USA.; Bellus G; Geisinger Health System, Danville, PA 17821, USA.; Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.; Oegema R; Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Mau-Them FT; Laboratoire de Génomique Médicale - Centre NEOMICS, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM - Université de Bourgogne - UMR1231 GAD, 21000 Dijon, France.; Garde A; Laboratoire de Génomique Médicale - Centre NEOMICS, CHU Dijon Bourgogne, 21000 Dijon, France.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Bley AE; Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.; Bredow J; Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.; Wagner T; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Decker E; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Bergmann C; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Domenach L; Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.; Margot H; Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Mefford H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.; Singh A; Department of Biology, University of Dayton, Dayton, OH, USA.; Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: udai@pitt.edu.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany. Electronic address: konrad.platzer@medizin.uni-leipzig.de.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Karnstedt M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; McDaniels E; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Somorai M; Center for Rare Developmental Disorders, Technical University of Munich, kbo Children's Center Munich, Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine, and Social Pediatrics, Department of Pediatrics, University Hospital Munich, Munich, Germany.; Veenma DCM; Department of Pediatrics, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Fantaneanu TA; Department of Medicine, Ottawa Hospital, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Park K; Departments of Pediatrics, Pharmacology, Neurology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Boulder, Colorado, USA.; Chen W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA.; Benke TA; Departments of Pediatrics, Pharmacology, Neurology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Boulder, Colorado, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. johannes.lemke@medizin.uni-leipzig.de.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany. johannes.lemke@medizin.uni-leipzig.de.; Eoli A; Hasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam, Germany.; Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Wittekind DA; Department of Psychiatry and Psychotherapy, University of Leipzig Medical Center, Leipzig, Germany.; Institue for Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig Medical Center, Leipzig, Germany.; Vuorinen AL; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Faculty of Social Sciences, Unit of Health Sciences, Tampere University, Tampere, Finland.; Aldhalaan HM; Department of Neuroscience Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Baer S; Department of Pediatric Neurology, University Hospitals of Strasbourg, Strasbourg, France.; de Saint Martin A; Department of Pediatric Neurology, University Hospitals of Strasbourg, Strasbourg, France.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Hornemann F; Department of Pediatrics, Klinikum Chemnitz, Chemnitz, Germany.; Ingebrigtsen T; National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et Génétique (IPG), Charleroi (Gosselies), Belgium.; Lesca G; Department of Medical Genetics, University Hospital of Lyon, Claude Bernard University Lyon 1, Lyon, France.; Marafie D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Mathot M; Neuropediatric Unit, CHU UCL-Namur, Namur, Belgium.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Schelhaas HJ; Department of Neurology, Stichting Epilepsie Instellingen Nederland, SEIN, Zwolle, The Netherlands.; Stillman C; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA.; Orsini A; Section of Pediatric Neurology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Patel AD; Division of Pediatric Neurology, Nationwide Children's Hospital, Department of Pediatrics, The Ohio State College of Medicine, Columbus, OH, USA.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.; UMR 1231 GAD, Inserm, Université de Bourgogne, Dijon, France.; Veggiotti P; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.; Vlaskamp DRM; Department of Genetics and Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.; Weckhuysen S; VIB-Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.; Center for the Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, USA.; Benke TA; Section of Child Neurology, Department of Pediatrics, University of Colorado, Aurora, CO, USA.; Heyne HO; Hasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Potsdam, Germany. Henrike.Heyne@hpi.de.; Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Henrike.Heyne@hpi.de.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, Helsinki, Finland. Henrike.Heyne@hpi.de.; Syrbe S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Clinic 1, Division of Pediatric Epileptology, Heidelberg, Germany.
Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE
Academic Journal
Myers, Scott J; Yuan, Hongjie; Perszyk, Riley E; Zhang, Jing; Kim, Sukhan; Nocilla, Kelsey A; Allen, James P; Bain, Jennifer M; Lemke, Johannes R; Lal, Dennis; Benke, Timothy A; Traynelis, Stephen F
Human Molecular Genetics; 10/1/2023, Vol. 32 Issue 19, p2857-2871, 15p
Academic Journal
Le Duc, Diana; Velluva, Akhil; Cassatt-Johnstone, Molly; Olsen, Remi-Andre; Baleka, Sina; Lin, Chen-Ching; Lemke, Johannes R; Southon, John R; Burdin, Alexander; Wang, Ming-Shan; Dalén, Love
Science Advances. 8(5)
Academic Journal
Custodio, Helena Martins; Clayton, Lisa M; Bellampalli, Ravishankara; Pagni, Susanna; Silvennoinen, Katri; Caswell, Richard; Consortium, Genomics England Research; Brunklaus, Andreas; Guerrini, Renzo; Koeleman, Bobby P C; Lemke, Johannes R; Møller, Rikke S; Scheffer, Ingrid E; Weckhuysen, Sarah; Zara, Federico; Zuberi, Sameer; Kuchenbaecker, Karoline; Balestrini, Simona; Mills, James D; Sisodiya, Sanjay M
Academic Journal
Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Fanella M; Fabrizio Spaziani Hospital, Frosinone, Italy.; Chaumette B; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada.; Putotto C; Department of Maternal, Infantile, and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Mignot C; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism', Paris, France.; Mazzeo A; IRCCS Neuromed, Pozzilli, Italy.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Accinni T; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Louveau C; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France.; Giovannetti A; Clinical Genomics Laboratory, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.; Pugnaloni F; Research Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, Rome, Italy.; Gavaret M; Service de Neurophysiologie Clinique, Groupe Hospitalier Universitaire Paris Psychiatrie et Neurosciences, Paris, France.; Di Fabio F; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Fortunato F; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy.; Dorn T; Rehaklinik Sonnmatt Luzern, Zurzach Care, Lucerne, Switzerland.; Ferlazzo E; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy.; Gambardella A; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy.; Ramantani G; Department of Neuropediatrics, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Orlando B; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.; Iftimovici A; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France.; Operto FF; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy.; Pulvirenti F; Regional Reference Center for Primary Immune Deficiencies, University Hospital Policlinico Umberto I, Rome, Italy.; Kluger G; Research Institute Rehabilitation, Transition, and Palliation, Paracelsus Medical University Salzburg, Salzburg, Austria.; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.; Caputo V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy.; Di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
Ademuwagun IA; Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria.; Biochemistry Department, Covenant University, Ota, Ogun State, Nigeria.; Adam Y; Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria.; Rotimi SO; Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria.; Biochemistry Department, Covenant University, Ota, Ogun State, Nigeria.; Covenant Applied Informatics and Communications African Center of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, Nigeria.; Syrbe S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Department 1, Division of Pediatric Epileptology, Heidelberg, Germany.; Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Adebiyi E; Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria.; Division of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; African Center of Excellence in Bioinformatics & Data Intensive Science, Makerere University, Kampala, Uganda.
Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE
Academic Journal
Klötzer C; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.; Schnabel F; University Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany.; Kubasch AS; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.; Jentzsch M; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.; Franke GN; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.; Uhlig J; Hematological Praxis Naunhof, Naunhof, Germany.; Faust H; University Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany.; Jauss RT; University Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany.; Oppermann H; University Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany.; Popp D; University Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany.; Metzeler KH; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.; Lemke JR; University Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany.; University Leipzig Medical Center, Center for Rare Diseases, Leipzig, Germany.; Vučinić V; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.; Platzbecker U; University Leipzig Medical Center, Department of Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, Leipzig, Germany.; Comprehensive Cancer Center Central Germany, Leipzig, Germany.
Publisher: Karger Country of Publication: Switzerland NLM ID: 0141053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9662 (Electronic) Linking ISSN: 00015792 NLM ISO Abbreviation: Acta Haematol Subsets: MEDLINE
Academic Journal
Macnee, Marie; Pérez-Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefanski, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan L; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke S; Lemke, Johannes R; Nothnagel, Michael; May, Patrick; Lal, Dennis
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Academic Journal
Brünger, Tobias; Pérez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Møller, Rikke S; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R; Brunklaus, Andreas; Traynelis, Stephen F; May, Patrick; Lal, Dennis
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