المؤلفون: Maltseva, Margarita, Rosenow, Felix, Schubert-Bast, Susanne, Flege, Silke, Wolff, Markus, Spiczak, Sarah von, Trollmann, Regina, Syrbe, Steffen, Ruf, Susanne, Polster, Tilman, Neubauer, Bernd, Mayer, Thomas, Jacobs-LeVan, Julia, Kurlemann, Gerhard, Kluger, Gerhard, Klotz, Kerstin Alexandra, Kieslich, Matthias, Kay, Lara, Hornemann, Frauke, Bettendorf, Ulrich, Bertsche, Astrid, Bast, Thomas, Strzelczyk, Adam

المصدر: Epilepsia. - 65, 1 (2024) , 115-126, ISSN: 1528-1167

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/240630Test

الإتاحة: https://doi.org/10.1111/epi.17799Test
https://freidok.uni-freiburg.de/data/240630Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2406301Test
https://freidok.uni-freiburg.de/dnb/download/240630Test

المؤلفون: Kray, Ilona, Lemke, Johannes R., von Spiczak, Sarah

المصدر: Clinical Epileptology ; ISSN 2948-104X 2948-1058

الإتاحة: https://doi.org/10.1007/s10309-023-00647-4Test

المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

المصدر: American Journal of Human Genetics. 108(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6480d7ncTest

المؤلفون: Galer, Peter D, Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E, Pendziwiat, Manuela, Helbig, Katherine L, Ellis, Colin A, Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Group, NCEE Study, Investigators, EPGP, Consortium, EuroEPINOMICS-RES, Network, Genomics Research and Innovation, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo

المصدر: American Journal of Human Genetics. 107(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Epilepsy, Prevention, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Child, Preschool, Cohort Studies, Female, GABA Plasma Membrane Transport Proteins, Gene Expression, Gene Ontology, Humans, Male, Munc18 Proteins, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Semantics, Shab Potassium Channels, Spasms, Infantile, Speech Disorders, Terminology as Topic, Exome Sequencing, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Human Phenotype Ontology, childhood epilepsies, computational phenotypes, developmental and epileptic encephalopathies, electronic medical records, neurogenetic disorders, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1jp636w4Test

المؤلفون: Collaborative, Epi25, 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, De Jonghe, 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 MC, 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, van Baalen, Andreas, von Spiczak, 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

المصدر: American Journal of Human Genetics. 105(2)

مصطلحات موضوعية: Clinical Research, Human Genome, Neurosciences, Epilepsy, Biotechnology, Genetics, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, DNA Mutational Analysis, Exome, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Exome Sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0wz3s560Test

المؤلفون: Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Goldstein, David B., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leech, Stephanie L., Leu, Costin, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Depondti, Chantal, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Yiolanda, Christou, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias H., von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, 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, Lauxmann, Stephan, Bosselmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert H. W., Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joe, 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., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Lino, Nobili, Amadori, Elisa, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry-Zgheib, Nathalie, Tumienė, Birutė, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., 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, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Newton, Charles R. J. C., Kariuki, Symon M., Wagner, Ryan G., Owusu-Agyei, Seth, Cole, Andrew J., McGraw, Christopher M., Siena, S. Anthony, Davis, Lea, Hucks, Donald, Faucon, Annika, Wu, David, Abou-Khalil, Bassel W., Haas, Kevin, Taneja, Randip S.

المصدر: Nature communications., Berlin : Nature Portfolio, 2023, vol. 14, iss. 1, art. no. 4392, p. [1-19]. ; eISSN 2041-1723

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:172752928/172752928.pdfTest; https://repository.vu.lt/VU:ELABAPDB172752928&prefLang=en_USTest

الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://repository.vu.lt/VU:ELABAPDB172752928&prefLang=en_USTest

المؤلفون: Maltseva, Margarita, Schubert-Bast, Susanne, Zöllner, Johann Philipp, Bast, Thomas, Mayer, Thomas, Spiczak, Sarah von, Ruf, Susanne, Trollmann, Regina, Wolff, Markus, Hornemann, Frauke, Klotz, Kerstin Alexandra, Jacobs-LeVan, Julia, Kurlemann, Gerhard, Neubauer, Bernd A., Polster, Tilman, Syrbe, Steffen, Bertsche, Astrid, Bettendorf, Ulrich, Kluger, Gerhard, Flege, Silke, Rosenow, Felix, Kay, Lara, Strzelczyk, Adam

المصدر: Orphanet journal of rare diseases. - 18, 1 (2023) , 98, ISSN: 1750-1172

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/236007Test

الإتاحة: https://doi.org/10.1186/s13023-023-02697-3Test
https://freidok.uni-freiburg.de/data/236007Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2360070Test
https://freidok.uni-freiburg.de/dnb/download/236007Test

المؤلفون: 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

المصدر: Epilepsia ; volume 65, issue 1, page 115-126 ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.17799Test

المؤلفون: Boßelmann, Christian, Borggräfe, Ingo, Fazeli, Walid, Klein, Karl-Martin, Kluger, Gerhard J., Müller-Schlüter, Karen, Neubauer, Bernd A., von Spiczak, Sarah, Steinbeis von Stülpnagel, Celina, Weber, Yvonne, Lemke, Johannes R., Wolking, Stefan, Krey, Ilona

المساهمون: RWTH Aachen University

المصدر: Clinical Epileptology ; volume 36, issue 3, page 224-237 ; ISSN 2948-104X 2948-1058

الإتاحة: https://doi.org/10.1007/s10309-023-00580-6Test

المؤلفون: von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio DJ, Sisodiya, Sanjay M, Helbig, Ingo

المصدر: Neurology. 89(4)

مصطلحات موضوعية: Neurosciences, Intellectual and Developmental Disabilities (IDD), Genetics, Clinical Research, Brain Disorders, Epilepsy, Pediatric, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Brain Diseases, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Dynamins, Female, GTP Phosphohydrolases, Homeodomain Proteins, Humans, Infant, Male, Microtubule-Associated Proteins, Mitochondrial Proteins, Models, Molecular, Mutation, Phenotype, Short Stature Homeobox Protein, Siblings, Synaptic Vesicles, Young Adult, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6fz8f4r5Test