المؤلفون: Seymour M Lopez, Saud Alhusaini, Norman Delanty, Christopher D Whelan, ENIGMA Consortium Epilepsy Working Group

مصطلحات موضوعية: Radiology and organ imaging, Central nervous system, Neurology and neuromuscular diseases, MTLE, disease progression, duration of illness, event-based model, patient staging, common epilepsies, cortical thinning, mesial temporal lobe epilepsy and hippocampal sclerosis (MTLE-HS), antiseizure medicine (ASM), event-based model (EBM), magnetic resonance imaging (MRI), progression staging

العلاقة: 10779/rcsi.24592650.v1; https://figshare.com/articles/journal_contribution/Event-based_modeling_in_temporal_lobe_epilepsy_demonstrates_progressive_atrophy_from_cross-sectional_data/24592650Test

الإتاحة: https://figshare.com/articles/journal_contribution/Event-based_modeling_in_temporal_lobe_epilepsy_demonstrates_progressive_atrophy_from_cross-sectional_data/24592650Test

المؤلفون: Epi25 Collaborative, Genomic Psychiat Cohort GPC Consor, Feng, Yen-Chen Anne, Howrigan, Daniel P., Heyne, Henrike, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Palotie, Aarno, Daly, Mark J., Neale, Benjamin M.

المساهمون: Institute for Molecular Medicine Finland, Children's Hospital, HUS Children and Adolescents, Department of Medical and Clinical Genetics, University Management, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: DE-NOVO MUTATIONS, EPILEPTIC SEIZURES, COMMON EPILEPSIES, VARIANTS, PROTEIN, METAANALYSIS, GENOME, GAMMA-2-SUBUNIT, SUSCEPTIBILITY, EPIDEMIOLOGY, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: We gratefully thank the Epi25 principal investigators, local staff from individual cohorts, and all of the individuals with epilepsy who participated in the study for making possible this global collaboration and resource to advance epilepsy genetics research. This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG research activities at the Broad Institute were supported by NHGRI grant UM1 HG008895. The Genome Sequencing Program efforts were also supported by NHGRI grant 5U01HG009088-02. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. A supplemental grant for Epi25 phenotyping was supported by "Epi25 Clinical Phenotyping R03," National Institutes of Health (1R03NS108145-01), with D.H.L. and S.F.B. as the principal investigators. Additional funding sources and acknowledgment of individual case and control cohorts were listed in the Supplemental Data. We thank the Stanley Center for Psychiatric Research at the Broad Institute for supporting sequencing effort and control sample aggregation. The authors would like to thank the DiscovEHR collaboration of Geisinger Health System and Regeneron for providing exome variant data for comparison. We also thank Sali Farhan, Kyle Satterstrom, and Chai-Yen Chen for helpful discussions, Nick Watts and Matthew Solomonson for browser development, and the Hail team for analysis support.; Epi25 Collaborative , Genomic Psychiat Cohort GPC Consor , Feng , Y-C A , Howrigan , D P , Heyne , H , Linnankivi , T , Lehesjoki , A-E , Palotie , A , Daly , M J & Neale , B M 2019 , ' Ultra-Rare Genetic Variation in the Epilepsies : A Whole-Exome Sequencing Study of 17,606 Individuals ' , American Journal of Human Genetics , vol. 105 , no. 2 , pp. 267-282 . https://doi.org/10.1016/j.ajhg.2019.05.020Test; ORCID: /0000-0002-2527-5874/work/97266414; http://hdl.handle.net/10138/312995Test; e0debe85-cc3f-4abe-afbb-0fd0ce0bfabb; 000478022200004

الإتاحة: http://hdl.handle.net/10138/312995Test

المؤلفون: Sarita Thakran, Debleena Guin, Pooja Singh, Priyanka Singh, Samiksha Kukal, Chitra Rawat, Saroj Yadav, Suman S. Kushwaha, Achal K. Srivastava, Yasha Hasija, Luciano Saso, Srinivasan Ramachandran, Ritushree Kukreti

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 20; Pages: 7784

مصطلحات موضوعية: common epilepsies, epilepsy, seizures, genetics, genetic generalized epilepsy, genetic biomarker, prognosis, precision treatment, molecular markers, ion channel receptors

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pharmacology; https://dx.doi.org/10.3390/ijms21207784Test

الإتاحة: https://doi.org/10.3390/ijms21207784Test

المؤلفون: Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G., Trenite, Dorothee Kasteleijn-Nolst, Sonsma, Anja C. M., Koeleman, Bobby P., Lindhout, Dick, Weber, Yvonne G., Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M., Rosenow, Felix, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Moller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nuernberg, Peter, Sander, Thomas, EPICURE Consortium

المساهمون: Genetica Klinische Genetica, Brain, Genetica

مصطلحات موضوعية: AUTISM SPECTRUM DISORDER, COPY NUMBER VARIANTS, GENOME-WIDE ASSOCIATION, OF-FUNCTION MUTATIONS, EPILEPTIC ENCEPHALOPATHY, DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, 15Q13.3 MICRODELETIONS, 16P13.11 PREDISPOSE, COMMON EPILEPSIES, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/331677Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/331677Test

المؤلفون: Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Patrick Kwan, Anthony G. Marson, Randy Stewart, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara R. Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S. Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J. Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Nina Barišić, Norman Delanty, Colin P. Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birute Tumiene, Lynette G. Sadleir, Chontelle King, Emily Mountier, S. Hande Caglayan, Mutluay Arslan, Zuhal Yapıcı, Uluc Yis, Pınar Topaloglu, Bulent Kara, Dilsad Turkdogan, Aslı Gundogdu-Eken, Nerses Bebek, Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jacqueline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L. Helbig, Colin A. Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nick Bass, Andrew McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T. Pato, Carlos N. Pato, Evelyn J. Bromet, Celia Barreto Carvalho, Eric D. Achtyes, Maria Helena Azevedo, Roman Kotov, Douglas S. Lehrer, Dolores Malaspina, Stephen R. Marder, Helena Medeiros, Christopher P. Morley, Diana O. Perkins, Janet L. Sobell, Peter F. Buckley, Fabio Macciardi, Mark H. Rapaport, James A. Knowles, Ayman H. Fanous, Steven A. McCarroll, Namrata Gupta, Stacey B. Gabriel, Mark J. Daly, Eric S. Lander, Daniel H. Lowenstein, David B. Goldstein, Holger Lerche, Samuel F. Berkovic, Benjamin M. Neale

المساهمون: Wellcome Trust, Department of Health, Institute of Neurology, UCL, Imperial College Healthcare NHS Trust- BRC Funding, Commission of the European Communities, Medical Research Council (MRC), Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Singh T., Heyne H., Byrnes A., Churchhouse C., Watts N., Solomonson M., Lal D., Heinzen E.L., Dhindsa R.S., Stanley K.E., Cavalleri G.L., Hakonarson H., Helbig I., Krause R., May P., Weckhuysen S., Petrovski S., Kamalakaran S., Sisodiya S.M., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Kwan P., Marson A.G., Stewart R., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., McKenna K., Regan B.M., Bellows S.T., Leu C., Bennett C.A., Johns E.M.C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Sadoway T.R., Mo K., Krestel H., Gallati S., Papacostas S.S., Kousiappa I., Tanteles G.A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Kunz W.S., Zsurka G., Elger C.E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A.F., Steinhoff B.J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C.J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A.-E., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Barisic N., Delanty N., Doherty C.P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M.S., Mancardi M.M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Tumiene B., Sadleir L.G., King C., Mountier E., Caglayan S.H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Poduri A., Shiedley B.R., Shain C., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Khankhanian P., Helbig K.L., Ellis C.A., Spalletta G., Piras F., Gili T., Ciullo V., Reif A., McQuillin A., Bass N., McIntosh A., Blackwood D., Johnstone M., Palotie A., Pato M.T., Pato C.N., Bromet E.J., Carvalho C.B., Achtyes E.D., Azevedo M.H., Kotov R., Lehrer D.S., Malaspina D., Marder S.R., Medeiros H., Morley C.P., Perkins D.O., Sobell J.L., Buckley P.F., Macciardi F., Rapaport M.H., Knowles J.A., Fanous A.H., McCarroll S.A., Gupta N., Gabriel S.B., Daly M.J., Lander E.S., Lowenstein D.H., Goldstein D.B., Lerche H., Berkovic S.F., Neale B.M., Epi25 Collaborative, YÜCESAN, EMRAH, Institute for Molecular Medicine Finland, Children's Hospital, HUS Children and Adolescents, Department of Medical and Clinical Genetics, University Management, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders

المصدر: American journal of human genetics (Online) 105 (2019): 267–282. doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Singh T.; Heyne H.; Byrnes A.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Heinzen E.L.; Dhindsa R.S.; Stanley K.E.; Cavalleri G.L.; Hakonarson H.; Helbig I.; Krause R.; May P.; Weckhuysen S.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Kwan P.; Marson A.G.; Stewart R.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; McKenna K.; Regan B.M.; Bellows S.T.; Leu C.; Bennett C.A.; Johns E.M.C.; Macdonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Poduri A.; Shiedley B.R.; Shain C.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.; Reif A.; McQuillin A.; Bass N.; McIntosh A.; Blackwood D.; Johnstone M.; Palotie A.; Pato M.T.; Pato C.N.; Bromet E.J.; Carvalho C.B.; Achtyes E.D.; Azevedo M.H.; Kotov R.; Lehrer D.S.; Malaspina D.; Marder S.R.; Medeiros H.; Morley C.P.; Perkins D.O.; Sobell J.L.; Buckley P.F.; Macciardi F.; Rapaport M.H.; Knowles J.A.; Fanous A.H.; McCarroll S.A.; Gupta N.; Gabriel S.B.; Daly M.J.; Lander E.S.; Lowenstein D.H.; Goldstein D.B.; Lerche H.; Berkovic S.F.; Neale B.M./titolo:Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics (Online)/anno:2019/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:105
The American Journal of Human Genetics
The American journal of human genetics
American journal of human genetics, vol 105, iss 2

مصطلحات موضوعية: s.berkovic@unimelb.edu.au [Epi25 Collaborative. Electronic address], 0301 basic medicine, GAMMA-2-SUBUNIT, burden analysi, DNA Mutational Analysis, PROTEIN, Neurodegenerative, VARIANTS, SUSCEPTIBILITY, Medical and Health Sciences, Epilepsy, 0302 clinical medicine, 2.1 Biological and endogenous factors, EPIDEMIOLOGY, Missense mutation, Exome, Aetiology, Genetics (clinical), Exome sequencing, 11 Medical and Health Sciences, seizures, GABRG2, Genetics, Genetics & Heredity, 0303 health sciences, biology, COMMON EPILEPSIES, 1184 Genetics, developmental biology, physiology, sequencing, Biological Sciences, Epi25 Collaborative, Phenotype, GENOME, epileptic encephalopathy, burden analysis, Neurological, Biotechnology, Genetic Markers, seizure, EEF1A2, Burden analysis, epilepsy, exome, Article, 03 medical and health sciences, Clinical Research, Exome Sequencing, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Gene, EPILEPTIC SEIZURES, METAANALYSIS, 030304 developmental biology, Human Genome, Neurosciences, Genetic Variation, 06 Biological Sciences, medicine.disease, Brain Disorders, 030104 developmental biology, Genetic marker, DE-NOVO MUTATIONS, Case-Control Studies, biology.protein, 3111 Biomedicine, Human medicine, 030217 neurology & neurosurgery

وصف الملف: STAMPA; pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9360b5c87633a8c7de20198388242224Test
https://cronfa.swan.ac.uk/Record/cronfa51398/Download/51398__15710__c52ca83e489c49e7a8d471c1ab7659ff.pdfTest

المؤلفون: Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander

المساهمون: EPICURE Consortium

المصدر: Lal, D, Ruppert, A-K, Trucks, H, Schulz, H, de Kovel, C G, Kasteleijn-Nolst Trenité, D, Sonsma, A C M, Koeleman, B P, Lindhout, D, Weber, Y G, Lerche, H, Kapser, C, Schankin, C J, Kunz, W S, Surges, R, Elger, C E, Gaus, V, Schmitz, B, Helbig, I, Muhle, H, Stephani, U, Klein, K M, Rosenow, F, Neubauer, B A, Reinthaler, E M, Zimprich, F, Feucht, M, Møller, R S, Hjalgrim, H, De Jonghe, P, Suls, A, Lieb, W, Franke, A, Strauch, K, Gieger, C, Schurmann, C, Schminke, U, Nürnberg, P, Sander, T & EPICURE Consortium 2015, ' Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies ', PLOS Genetics, vol. 11, no. 5, e1005226 . https://doi.org/10.1371/journal.pgen.1005226Test
PLoS Genetics, Vol 11, Iss 5, p e1005226 (2015)
PLoS Genetics, 11(5). Public Library of Science
PLoS Genet. 11:e1005226 (2015)
PLoS genetics
PLoS Genetics

مصطلحات موضوعية: Male, Cancer Research, INTELLECTUAL DISABILITY, Genome-wide association study, QH426-470, Bioinformatics, 16P13.11 PREDISPOSE, Cohort Studies, 0302 clinical medicine, OF-FUNCTION MUTATIONS, Copy-number variation, Child, Non-U.S. Gov't, Genetics (clinical), Sequence Deletion, Genetics, Gene Rearrangement, COPY NUMBER VARIANTS, 0303 health sciences, DEVELOPMENTAL DELAY, COMMON EPILEPSIES, Research Support, Non-U.S. Gov't, 3. Good health, Epilepsy, Generalized, Female, Research Article, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, 15Q13.3 MICRODELETIONS, Biology, Research Support, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Molecular genetics, medicine, Genetic predisposition, Journal Article, SNP, Humans, Protein Interaction Domains and Motifs, ddc:610, GENOME-WIDE ASSOCIATION, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Genetic Association Studies, 030304 developmental biology, EPILEPTIC ENCEPHALOPATHY, Genome, Human, AUTISM SPECTRUM DISORDER, Case-control study, Gene rearrangement, Human genetics, Neurodevelopmental Disorders, Case-Control Studies, Human medicine, 030217 neurology & neurosurgery

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da92b5e75b27ae750ed15425386b652Test
https://portal.findresearcher.sdu.dk/da/publications/6357a666-4e4c-4b3d-8dae-cdb054ead333Test

مصطلحات الفهرس: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, DE-NOVO MUTATIONS, EPILEPTIC SEIZURES, COMMON EPILEPSIES, VARIANTS, PROTEIN, METAANALYSIS, GENOME, GAMMA-2-SUBUNIT, SUSCEPTIBILITY, EPIDEMIOLOGY, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30132138Test
https://doi.org/10.1016/j.ajhg.2019.05.020Test
issn: 0002-9297
issn: 1537-6605
https://doi.org/10.1016/j.ajhg.2019.05.020Test
http://www.dx.doi.org/10.1016/j.ajhg.2019.05.020Test
American journal of human genetics