المؤلفون: Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

المصدر: Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: SCN2A, Nav1.2, Channelopathy, Patch-clamp, Epilepsy, Epileptic encephalopathy, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s10020-019-0073-6Test; https://doaj.org/toc/1076-1551Test; https://doaj.org/toc/1528-3658Test

الوصول الحر: https://doaj.org/article/fbf502b38d494e16bcea44feee0b6afbTest

المؤلفون: Karin Zimmermann, Eva Cignacco, Sandra Engberg, Anne-Sylvie Ramelet, Nicolas von der Weid, Katri Eskola, Eva Bergstraesser, on behalf of the PELICAN Consortium, Marc Ansari, Christoph Aebi, Reta Baer, Maja Beck Popovic, Vera Bernet, Pierluigi Brazzola, Hans Ulrich Bucher, Regula Buder, Sandra Cagnazzo, Barbara Dinten, Anouk Dorsaz, Franz Elmer, Raquel Enriquez, Patricia Fahrni-Nater, Gabi Finkbeiner, Bernhard Frey, Urs Frey, Jeannette Greiner, Ralph-Ingo Hassink, Simone Keller, Oliver Kretschmar, Judith Kroell, Bernard Laubscher, Kurt Leibundgut, Reta Malaer, Andreas Meyer, Christoph Stuessi, Mathias Nelle, Thomas Neuhaus, Felix Niggli, Geneviève Perrenoud, Jean-Pierre Pfammatter, Barbara Plecko, Debora Rupf, Felix Sennhauser, Caroline Stade, Maja Steinlin, Lilian Stoffel, Karin Thomas, Christian Vonarburg, Rodo von Vigier, Bendicht Wagner, Judith Wieland, Birgit Wernz

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: End-of-life care, Terminal care, Paediatrics, Neonatology, Child, Practice patterns, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-018-1021-2Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/6f56e63901454781a844a9e888cbdd3fTest

المؤلفون: Roseline Caume, M Scott Perry, Massimo Mastrangelo, Margarete Koch-Hogrebe, Pasquale Striano, Karen Müller-Schlüter, Petra Laššuthová, Monisa D. Wagner, Ingo Helbig, Stephan Lauxmann, Emmanuel Scalais, Marie-Cécile Nassogne, Silvia Masnada, Henrike O. Heyne, Konrad Platzer, Frederic Bilan, Chloe A Stutterd, Sonja Walsh, Katrine M Johannesen, Damien Lederer, Ngoc Minh Le, Christina Fenger, Daniel Tibussek, Lukas Sonnenberg, Andrea Berger, Yuanyuan Liu, Mikhail Abramov, Karen E. Wain, Sergey Korostelev, P Y Billie Au, Elena L. Dadali, An-Sofie Schoonjans, Cornelia Betzler, Artem Borovikov, Johanna Krüger, Maert Rannap, Sebastian Lebon, Nils A Koch, Nancy Eisenhauer, Judith Kroell-Seger, Julian Schubert, Marije Meuwissen, Caroline Lund, Mark Fitzgerald, Federico Zara, Siddharth Srivastava, Claudia M Bonardi, Pia Zacher, Haim Bassan, Arve Vøllo, Katherine B. Howell, Francesca Darra, Guido Rubboli, Stephen W. Scherer, Bénédicte Gérard, Stefano Sartori, Annapurna Poduri, Helene Verhelst, Katalin Sterbova, Mathilde Nizon, Marketa Vlckova, Christina E. Hoei-Hansen, Renzo Guerrini, Ilya V. Kanivets, Juliann M. Savatt, Johannes Rebstock, Jakob Christensen, Cecilia Altuzarra, Dennis Lal, Judith S. Verhoeven, Agathe Roubertie, Constanze Heine, Dagmar Wieczorek, Ingo Borggraefe, Aster V. E. Harder, Anne Destrée, Wen-Hann Tan, Tobias Brünger, Shoji Ichikawa, Laura Canafoglia, Mahmoud Koko, Sergey Kutsev, Sabine Grønborg, Patrizia Accorsi, Heather E. Olson, Bert van der Zwaag, Cathrine E Gjerulfsen, Patrick May, A. A. Sharkov, M. Mahdi Motazacker, Manuela Pendziwiat, Richard J. Leventer, Anna Jansen, Lucio Giordano, Holger Lerche, Carla Marini, Karl Martin Klein, Eva H. Brilstra, Ahmed Eltokhi, Ethan M. Goldberg, Walid Fazeli, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Susanne Ruf, Jennifer L. Howe, Phillis Lakeman, Josua Kegele, Katherine L. Helbig, Marga Buzatu, Alice W Ho, Jan Benda, Ilona Krey, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Johannes R. Lemke, Pierangelo Veggiotti, Tobias Loddenkemper, Gaetan Lesca, Ulrike B. S. Hedrich, Silvana Franceschetti, Elena Gardella, Irina Mishina, María Vaccarezza, Timo Roser

المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Pediatrics, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321Test
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321Test
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321Test
Brain, 145(9), 2991-3009. Oxford University Press

مصطلحات موضوعية: medicine.medical_specialty, SCN8A, Gastroenterology, Epilepsy, Sodium channel blocker, Neurodevelopmental disorder, Seizures, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, genetics, Generalized epilepsy, Genetic Association Studies, Benign familial infantile epilepsy, Generalized, business.industry, Infant, personalized medicine, Prognosis, medicine.disease, Phenotype, Settore MED/39 - Neuropsichiatria Infantile, NAV1.6 Voltage-Gated Sodium Channel, Mutation, epilepsy, Original Article, Epilepsy, Generalized, Human medicine, Neurology (clinical), Age of onset, business, Epileptic Syndromes, Sodium Channel Blockers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3de186f73a35fb1500a80403bc648Test
https://doi.org/10.1093/brain/awab321Test

المؤلفون: Arve Vøllo, Stephen W. Scherer, Elena Gardella, Irina Mishina, María Vaccarezza, Jennifer L. Howe, Sebastian Lebon, Josua Kegele, Gaetan Lesca, Timo Roser, Silvia Masnada, Johannes Rebstock, Marga Buzatu, Damien Lederer, Ingo Borggraefe, Tobias Brünger, Ulrike B. S. Hedrich, Sergey Korostelev, Frédéric Bilan, Ahmed Eltokhi, M. Mahdi Motazacker, Karen E. Wain, Susanne Ruf, Manuela Pendziwiat, Lukas Sonnenberg, Yuanyuan Liu, Alice W Ho, Silvana Franceschetti, Jan Benda, Ethan M. Goldberg, Helene Verhelst, Julian Schubert, Juliann M. Savatt, Mathilde Nizon, Caroline Lund, Katherine B. Howell, Tobias Loddenkemper, Katherine L. Helbig, Cornelia Betzler, Roseline Caume, Francesca Darra, Richard J. Leventer, Christina Fenger, Pierangelo Veggiotti, Ilona Krey, Nancy Eisenhauer, Andrea Berger, Pasquale Striano, Heather E. Olson, An-Sofie Schoonjans, M Scott Perry, Stephan Lauxmann, Emmanuel Scalais, Petra Laššuthová, Monisa D. Wagner, Ilya V. Kanivets, A. A. Sharkov, P Y Billie Au, Mahmoud Koko, Siddharth Srivastava, Jakob Christensen, Artem Borovikov, Mette U Schmidt-Petersen, Anna Jansen, Judith S. Verhoeven, Johanna Krüger, Claudia M Bonardi, Shoji Ichikawa, Patrick May, Sabine Grønborg, Johannes R. Lemke, Marije Meuwissen, Katalin Sterbova, Mark Fitzgerald, Lucio Giordano, Holger Lerche, Mikhail Abramov, Bénédicte Gérard, Elena L. Dadali, Cecilia Altuzarra, Aster V. E. Harder, Stefano Sartori, Katrine M Johannesen, Sergey Kutsev, Maert Rannap, Renzo Guerrini, Dagmar Wieczorek, Laura Canafoglia, Annapurna Poduri, Christina E. Hoei-Hansen, Agathe Roubertie, Nils A Koch, Karen Müller-Schlüter, Chloe A Stutterd, Ngoc Minh Le, Pia Zacher, Constanze Heine, Sonja Walsh, Carla Marini, Federico Zara, Karl Martin Klein, Eva H. Brilstra, Guido Rubboli, Walid Fazeli, Judith Kroell-Seger, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Phillis Lakeman, Massimo Mastrangelo, Margarete Koch-Hogrebe, Ingo Helbig, Daniel Tibussek, Marketa Vlckova, Anne Destrée, Wen-Hann Tan, Haim Bassan, Dennis Lal, Patrizia Accorsi, Bert van der Zwaag, Cathrine E Gjerulfsen, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Marie-Cécile Nassogne

مصطلحات موضوعية: medicine.medical_specialty, Benign familial infantile epilepsy, business.industry, medicine.disease, Gastroenterology, Phenotype, Epilepsy, Electrophysiology, Sodium channel blocker, Internal medicine, medicine, Missense mutation, Generalized epilepsy, business, Genotype-Phenotype Correlations

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::35d884802200fc5b70287f52bd03bbc0Test
https://doi.org/10.1101/2021.03.22.21253711Test

المؤلفون: Herm J Lamberink, Willem M Otte, Ingmar Blümcke, Kees P J Braun, Martin Aichholzer, Isabel Amorim, Javier Aparicio, Eleonora Aronica, Alexis Arzimanoglou, Carmen Barba, Jürgen Beck, Albert Becker, Jan C Beckervordersandforth, Christian G Bien, Istvan Bodi, Kees PJ Braun, Helene Catenoix, Francine Chassoux, Mathilde Chipaux, Thomas Cloppenborg, Roland Coras, J Helen Cross, Luca De Palma, Jane De Tisi, Francesco Deleo, Bertrand Devaux, Giancarlo Di Gennaro, Georg Dorfmüller, John S Duncan, Christian Elger, Katharina Ernst, Vincenzo Esposito, Martha Feucht, Zeljka Petelin Gadze, Rita Garbelli, Karin Geleijns, Antonio Gil-Nagel, Alexander Grote, Thomas Grunwald, Renzo Guerrini, Hajo Hamer, Mrinalini Honavar, Thomas S Jacques, Antonia Jakovcevic, Leena Jutila, Adam Kalina, Reetta Kälviäinen, Karl Martin Klein, Kristina Koenig, Pavel Krsek, Manfred Kudernatsch, Martin Kudr, Kristina Malmgren, Petr Marusic, Armen Melikyan, Katja Menzler, Soheyl Noachtar, Çiğdem Özkara, Tom Pieper, Jose Pimentel, Savo Raicevic, Sylvain Rheims, Joana Ribeiro, Felix Rosenow, Karl Rössler, Bertil Rydenhag, Francisco Sales, Victoria San Antonio-Arce, Karl Lothar Schaller, Olaf Schijns, Theresa Scholl, Johannes Schramm, Andreas Schulze-Bonhage, Raf Sciot, Margitta Seeck, Lyudmila Shishkina, Dragoslav Sokic, Nicola Specchio, Tom Theys, Maria Thom, Rafael Toledano Delgado, Joseph Toulouse, Mustafa Uzan, Johannes van Loon, Wim Van Paesschen, Tim J von Oertzen, Floor Jansen, Frans Leijten, Peter van Rijen, Wim GM Spliet, Angelika Mühlebner, Burkhard S Kasper, Susanne Fauser, Tilman Polster, Thilo Kalbhenn, Daniel Delev, Andrew McEvoy, Anna Miserocchi, Elisabeth Landré, Bares Turak, Pascale Varlet, Sarah Ferrand-Sorbets, Martine Fohlen, Christine Bulteau, Anna Edelvik, Mukesch J Shah, Christian Scheiwe, Eva Gutierrez Delicado, Martin Tisdall, Christin Eltze, Serdar Akkol, Kaancan Deniz, Buge Oz, Hans Holthausen, Till Hartlieb, Martin Staudt, Sara Casciato, Pier P Quarato, Felice Giangaspero, Nathalie Streichenberger, Marc Guenot, Jean Isnard, Antonio Valentijn, Amanda Chang, Nandini Mullatti, Josef Zamecnik, Jana Zarubova, Martin Tomasek, Arto Immonen, Anni Saarela, Tuomas Rauramaa, Johannes A Lobrinus, Kristof Egervari, Shahan Momjian, Elisabeth Harti, Hannah Lohr, Judith Kroell, Lynn Vermeulen, Evy Cleeren, Pavel Vlasov, Antonia Kozlova, Alexey Vorobyev, Gudrun Goeppel, Sharon Samueli, Thomas Czech, Johannes Hainfellner, Gertraud Puttinger, Gabriele Schwarz, Harald Stefanits, Serge Weis, Roberto Spreafico, Flavio Villani, Laura Rossini, Anke Hermsen, Susanne Knake, Christopher Nimsky, Barbara Carl, Anezka Belohlavkova, Barbora Benova, Jeroen Bisschop, Albert Colon, Vivianne van Kranen-Mastenbroek, Rob PW Rouhl, Govert Hoogland, Jordi Rumiá, Alia Ramírez-Camacho, Santiago Candela-Cantó, Karine Ostrowsky-Coste, Eleni Panagiotakaki, Alexandra Montavont, Pascale Keo Kosal, Zeynep Gokce-Samar, Clara Milleret, Anna M Buccoliero, Flavio Giordano, Vlatko Sulentic, Goran Mrak, Andrej Desnica, Giusy CarfíPavia, Alessandro De Benedictis, Carlo E Marras, Vladimir Bascarevic, Nikola Vojvodic, Aleksandar Ristic, Olinda Rebelo, Angel Aledo-Serrano, Irene Garcia-Morales, Carla Anciones

المساهمون: RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Neurochirurgie (9), RS: GROW - R2 - Basic and Translational Cancer Biology, MUMC+: DA Pat Pathologie (9), Pathology, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms, Schaller, Karl Lothard

المصدر: Lancet Neurology, 19(9), 748-757. Elsevier Science
Lancet neurology, 19(9), 748-757. Lancet Publishing Group
The Lancet Neurology, Vol. 19, No 9 (2020) pp. 748-757

مصطلحات موضوعية: Adult, Male, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Adolescent, Drug Resistant Epilepsy/drug therapy/pathology/surgery, Cohort Studies, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, medicine, Humans, Epilepsy surgery, seizure outcome, epilepsy surgery, antiepileptic drugs, histopathological diagnosis, Longitudinal Studies, 030212 general & internal medicine, Young adult, Child, Preschool, Aged, Retrospective Studies, Hippocampal sclerosis, business.industry, Anticonvulsants/therapeutic use, Vascular malformation, Infant, SUCCESS, Retrospective cohort study, Middle Aged, Cortical dysplasia, medicine.disease, ddc:616.8, Treatment Outcome, Child, Preschool, Anticonvulsants, Female, Seizures/drug therapy/pathology/prevention & control, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c1f677cba833117000f872b9920f7eTest
https://www.bib.irb.hr/1242983Test

المؤلفون: Pascal Joset, Martin Poms, Anaïs Begemann, Marie-Claude Addor, Thomas Luke Simmons, Reza Asadollahi, Andrea Klein, Markus Zweier, Rosa Baldinger, Barbara Plecko, Alessandra Baumer, Annette Hackenberg, Silvia Azzarello-Burri, Thomas Schmitt-Mechelke, Judith Kroell-Seger, Anita Rauch, Eileen Socher, Sorina Mihaela Papuc, Katharina Steindl, Lisa M. Crowther, Karoline Otten, Regula Schmid, Beatrice Oneda, Lucia Abela, Gabriele Wohlrab, Michelle Seiler, Laura Gogoll, Heinrich Sticht, Tobias Iff, Michael Papik, Bernhard Schmitt

المساهمون: University of Zurich, Rauch, Anita

المصدر: European Journal of Human Genetics, 27 (3)
European Journal of Human Genetics
European journal of human genetics, vol. 27, no. 3, pp. 408-421

مصطلحات موضوعية: Adult, Male, 2716 Genetics (clinical), Adolescent, DNA Copy Number Variations, 10039 Institute of Medical Genetics, Genes, Recessive, 610 Medicine & health, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Mutation Rate, 1311 Genetics, Exome Sequencing, Genetics, Humans, Missense mutation, Exome, Copy-number variation, Allele, Child, Gene, Genetics (clinical), Exome sequencing, 0303 health sciences, Epilepsy, Genetic heterogeneity, 030305 genetics & heredity, Infant, Child, Preschool, Epilepsy/diagnosis, Epilepsy/genetics, Female, Whole Exome Sequencing/methods, 10036 Medical Clinic

وصف الملف: application/application/pdf; s41431-018-0299-8.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa720540e7b52c866ebdfa91ddb6744Test
https://hdl.handle.net/20.500.11850/328368Test

المؤلفون: Mario A. Acuña, Lucia Abela, Hanns Ulrich Zeilhofer, Markus Zweier, Yushi Inoue, Anaïs Begemann, Anita Rauch, Annette Hackenberg, Ruxandra Bachmann-Gagescu, Kazuhiro Yamakawa, Katharina Steindl, Judith Kroell-Seger, Barbara Plecko, Alessandra Baumer, Reza Asadollahi, Marie Vincent, Heinrich Sticht

المساهمون: University of Zurich

المصدر: Molecular Medicine
Molecular Medicine, 25 (1)
Molecular Medicine, Vol 25, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: 0301 basic medicine, 10039 Institute of Medical Genetics, Intellectual disability, 10050 Institute of Pharmacology and Toxicology, Gating, Epilepsy, 0302 clinical medicine, Channelopathy, Medizinische Fakultät, Missense mutation, lcsh:QD415-436, Child, Genetics (clinical), Genetics, NAV1.2 Voltage-Gated Sodium Channel, Epileptic encephalopathy, Phenotype, 3. Good health, Electrophysiology, 030220 oncology & carcinogenesis, Molecular Medicine, Research Article, 2716 Genetics (clinical), Adolescent, SCN2A, Nav1.2, Patch-clamp, Structural modelling, 610 Medicine & health, Biology, lcsh:Biochemistry, 03 medical and health sciences, Young Adult, 1311 Genetics, 1312 Molecular Biology, medicine, Humans, ddc:610, Molecular Biology, QH426, Genetic Association Studies, Sodium channel, lcsh:RM1-950, medicine.disease, Epilepsy, Benign Neonatal, lcsh:Therapeutics. Pharmacology, 030104 developmental biology, HEK293 Cells, 10036 Medical Clinic, 1313 Molecular Medicine, 570 Life sciences, biology, Autism, Epileptic Syndromes

وصف الملف: application/pdf; application/application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba47fd3543f58b58aa3f2217aa5be37dTest
http://gala.gre.ac.uk/id/eprint/36706/1/36706_ASADOLLAHI_Further_corroboration_of_distinct.pdfTest

المؤلفون: Lilian Stoffel, Christoph Stuessi, Jean-Pierre Pfammatter, Simone Keller, Judith Kroell, Sandra Cagnazzo, Eva Bergstraesser, Karin Thomas, Reta Malaer, Geneviève Perrenoud, Felix Niggli, Rodo von Vigier, Pierluigi Brazzola, Sandra Engberg, Judith Wieland, Gabi Finkbeiner, Kurt Leibundgut, Marc Ansari, Andreas Meyer, Karin Zimmermann, Reta Baer, Oliver Kretschmar, Barbara Dinten, Bernard Laubscher, Maja Steinlin, Franz Elmer, Maja Beck Popovic, Anouk Dorsaz, Bendicht Wagner, Christoph Aebi, Birgit Wernz, Anne-Sylvie Ramelet, Vera Bernet, Raquel Enriquez, Urs Frey, Barbara Plecko, Nicolas von der Weid, Hans Ulrich Bucher, Christian Vonarburg, Debora Rupf, Jeannette Greiner, Mathias Nelle, Patricia Fahrni-Nater, Bernhard Frey, Eva Cignacco, Regula Buder, Thomas J. Neuhaus, Felix H. Sennhauser, Katri Eskola, Caroline Stade, Ralph-Ingo Hassink

المساهمون: Ansari Djaberi, Marc Georges, PELICAN Consortium

المصدر: BMC Pediatrics, Vol. 18, No 1 (2018) P. 67
BMC pediatrics, vol. 18, no. 1, pp. 67
BMC Pediatrics
Zimmermann, Karin; Cignacco, Eva; Engberg, Sandra; Ramelet, Anne-Sylvie; von der Weid, Nicolas; Eskola, Katri; Bergstraesser, Eva (2018). Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland. BMC pediatrics, 18(1), p. 67. BioMed Central 10.1186/s12887-018-1021-2 <http://dx.doi.org/10.1186/s12887-018-1021-2Test>
BMC Pediatrics, Vol 18, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Male, Palliative care, Cross-sectional study, Psychological intervention, Practice Patterns, Pediatrics, 0302 clinical medicine, Health care, Medicine, 030212 general & internal medicine, Community Health Services, Practice Patterns, Physicians', 610 Medicine & health, Child, Terminal Care, ddc:618, Palliative Care, lcsh:RJ1-570, Hospitalization, End-of-life care, Child, Preschool, Female, Switzerland, Research Article, medicine.medical_specialty, Adolescent, Practice patterns, MEDLINE, Community Health Services/statistics & numerical data, Physicians'/statistics & numerical data, 03 medical and health sciences, 030225 pediatrics, Intensive care, Humans, Neonatology, Paediatrics, Retrospective studies, Terminal care, Preschool, Hospitalization/statistics & numerical data, Retrospective Studies, Palliative Care/statistics & numerical data, business.industry, Infant, Newborn, Infant, lcsh:Pediatrics, Retrospective cohort study, Newborn, Cross-Sectional Studies, Family medicine, Pediatrics, Perinatology and Child Health, Terminal Care/methods/statistics & numerical data, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ecab28eee25669c9f17514ec2009630Test
https://archive-ouverte.unige.ch/unige:128711Test

المؤلفون: David Wille, Anita Rauch, Heinrich Sticht, Judith Kroell-Seger, Sorina Mihaela Papuc, Barbara Plecko, Annette Hackenberg, Alessandra Baumer, Pascal Joset, Bernhard Schmitt

المصدر: Neuropediatrics. 45:261-264

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mutation, Missense, Choreoathetosis, Disorders of Excessive Somnolence, medicine.disease_cause, Atrophy, Chorea, Humans, Medicine, Missense mutation, Disease-causing Mutation, Athetosis, Exome sequencing, SCN2A gene, Genetics, Mutation, Epilepsy, NAV1.2 Voltage-Gated Sodium Channel, business.industry, Epileptic encephalopathy, Brain, Infant, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703d6a5ff6ff730a97f012c78a46ac5cTest
https://doi.org/10.1055/s-0034-1372302Test

المؤلفون: Saskia Biskup, Jürgen Sperner, Stefan Herms, Anna-Elina Lehesjoki, Per Hoffmann, Markus Wolff, Rikke S. Møller, Hannelore Steinböck, José M. Serratosa, Peter De Jonghe, Ingo Helbig, Michael Alber, Markus Schilhabel, Laura Addis, Sarah E. Buerki, Gabriele Wohlrab, Birgit Neophythou, Johanna A. Jähn, Michael Nothnagel, Ulvi Vaher, D Edda Haberlandt, Ursula Gruber-Sedlmayr, Johannes R. Lemke, Yvonne G. Weber, Judith Kroell, Ulrich Stephani, Kadi Veri, Shan Tang, Natalio Fejerman, Gerhard Kluger, Jan Larsen, Susanne Ruf, Deb K. Pal, Sarah von Spiczak, Kirsten Geider, Bodo Laube, Gerhard Kurlemann, Martha Feucht, Dennis Lal, Bernd A. Neubauer, Robert J. Harvey, Tiina Talvik, Elaine Hughes, Tarja Linnankivi, Katrin Finsterwalder, Fritz Zimprich, Rainer Boor, Christina Kutzer, Petia Dimova, Andreas Hahn, Janine Altmüller, Christian Wilhelm, Barbara Fiedler, Felicitas Becker, Andre Franke, Helle Hjalgrim, Sarah Weckhuysen, Michael Schwake, Isabelle Steiner, Alexandre N. Datta, Gabriel M. Ronen, Rosa Guerrero López, Hiltrud Muhle, Mohammad R. Toliat, Holger Lerche, Eva M. Reinthaler, Peter Nürnberg, Roberto Caraballo, Holger Thiele, Wim Van Paesschen, Julia Geldner

المساهمون: University of Zurich, von Spiczak, Sarah

المصدر: Lemke, J R, Lal, D, Reinthaler, E M, Steiner, I, Nothnagel, M, Alber, M, Geider, K, Laube, B, Schwake, M, Finsterwalder, K, Franke, A, Schilhabel, M, Jähn, J A, Muhle, H, Boor, R, Van Paesschen, W, Caraballo, R, Fejerman, N, Weckhuysen, S, De Jonghe, P, Larsen, J, Møller, R S, Hjalgrim, H, Addis, L, Tang, S, Hughes, E, Pal, D K, Veri, K, Vaher, U, Talvik, T, Dimova, P, Guerrero López, R, Serratosa, J M, Linnankivi, T, Lehesjoki, A-E, Ruf, S, Wolff, M, Buerki, S, Wohlrab, G, Kroell, J, Datta, A N, Fiedler, B, Kurlemann, G, Kluger, G, Hahn, A, Haberlandt, D E, Kutzer, C, Sperner, J, Becker, F, Weber, Y G, Feucht, M, Steinböck, H, Neophythou, B, Ronen, G M, Gruber-Sedlmayr, U, Geldner, J, Harvey, R J, Hoffmann, P, Herms, S, Altmüller, J, Toliat, M R, Thiele, H, Nürnberg, P, Wilhelm, C, Stephani, U, Helbig, I, Lerche, H, Zimprich, F, Neubauer, B A, Biskup, S & von Spiczak, S 2013, ' Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes ', Nature Genetics, vol. 45, no. 9, pp. 1067-1072 . https://doi.org/10.1038/ng.2728Test
NATURE GENETICS
Nature genetics
Nature genetics 45(9), 1067-1072 (2013). doi:10.1038/ng.2728

مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Protein Conformation, Mutation, Missense, 610 Medicine & health, Status epilepticus, medicine.disease_cause, Receptors, N-Methyl-D-Aspartate, Gastroenterology, diagnosis [Epilepsies, Partial], 03 medical and health sciences, Epilepsy, genetics [Epilepsies, Partial], 0302 clinical medicine, Nr2a subunit, 1311 Genetics, ddc:570, Internal medicine, genetics [Receptors, N-Methyl-D-Aspartate], Genetics, medicine, Humans, Missense mutation, chemistry [Receptors, N-Methyl-D-Aspartate], metabolism [Receptors, N-Methyl-D-Aspartate], 030304 developmental biology, 0303 health sciences, Mutation, biology, N-methyl D-aspartate receptor subtype 2A, medicine.disease, Pedigree, 3. Good health, Rolandic epilepsy, Exact test, Amino Acid Substitution, 10036 Medical Clinic, biology.protein, GRIN2A, Female, Human medicine, Epilepsies, Partial, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0281aff55ae5d7df342ab95dbc568ddbTest
https://doi.org/10.5167/uzh-91805Test