المؤلفون: Line Skotte, João Fadista, Jonas Bybjerg-Grauholm, Vivek Appadurai, Michael S Hildebrand, Thomas F Hansen, Karina Banasik, Jakob Grove, Clara Albiñana, Frank Geller, Carmen F Bjurström, Bjarni J Vilhjálmsson, Matthew Coleman, John A Damiano, Rosemary Burgess, Ingrid E Scheffer, Ole Birger Vesterager Pedersen, Christian Erikstrup, David Westergaard, Kaspar René Nielsen, Erik Sørensen, Mie Topholm Bruun, Xueping Liu, Henrik Hjalgrim, Tune H Pers, Preben Bo Mortensen, Ole Mors, Merete Nordentoft, Julie W Dreier, Anders D Børglum, Jakob Christensen, David M Hougaard, Alfonso Buil, Anders Hviid, Mads Melbye, Henrik Ullum, Samuel F Berkovic, Thomas Werge, Bjarke Feenstra

المساهمون: Institute for Molecular Medicine Finland

المصدر: Skotte, L, Fadista, J, Bybjerg-Grauholm, J, Appadurai, V, Hildebrand, M S, Hansen, T F, Banasik, K, Grove, J, Albiñana, C, Geller, F, Bjurström, C F, Vilhjálmsson, B J, Coleman, M, Damiano, J A, Burgess, R, Scheffer, I E, Pedersen, O B V, Erikstrup, C, Westergaard, D, Nielsen, K R, Sørensen, E, Bruun, M T, Liu, X, Hjalgrim, H, Pers, T H, Mortensen, P B, Mors, O, Nordentoft, M, Dreier, J W, Børglum, A D, Christensen, J, Hougaard, D M, Buil, A, Hviid, A, Melbye, M, Ullum, H, Berkovic, S F, Werge, T & Feenstra, B 2022, ' Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes ', Brain, vol. 145, no. 2, awab260, pp. 555-568 . https://doi.org/10.1093/brain/awab260Test
Skotte, L, Fadista, J, Bybjerg-Grauholm, J, Appadurai, V, Hildebrand, M S, Hansen, T F, Banasik, K, Grove, J, Albiñana, C, Geller, F, Bjurström, C F, Vilhjálmsson, B J, Coleman, M, Damiano, J A, Burgess, R, Scheffer, I E, Pedersen, O B V, Erikstrup, C, Westergaard, D, Nielsen, K R, Sørensen, E, Bruun, M T, Liu, X, Hjalgrim, H, Pers, T H, Mortensen, P B, Mors, O, Nordentoft, M, Dreier, J W, Børglum, A D, Christensen, J, Hougaard, D M, Buil, A, Hviid, A, Melbye, M, Ullum, H, Berkovic, S F, Werge, T & Feenstra, B 2022, ' Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes ', Brain, vol. 145, no. 2, pp. 555–568 . https://doi.org/10.1093/brain/awab260Test
Skotte, L, Fadista, J, Bybjerg-Grauholm, J, Appadurai, V, Hildebrand, M S, Hansen, T F, Banasik, K, Grove, J, Albiñana, C, Geller, F, Bjurström, C F, Vilhjálmsson, B J, Coleman, M, Damiano, J A, Burgess, R, Scheffer, I E, Pedersen, O B V, Erikstrup, C, Westergaard, D, Nielsen, K R, Sørensen, E, Bruun, M T, Liu, X, Hjalgrim, H, Pers, T H, Mortensen, P B, Mors, O, Nordentoft, M, Dreier, J W, Børglum, A D, Christensen, J, Hougaard, D M, Buil, A, Hviid, A, Melbye, M, Ullum, H, Berkovic, S F, Werge, T & Feenstra, B 2022, ' Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes ', Brain : a journal of neurology, vol. 145, no. 2, pp. 555–568 . https://doi.org/10.1093/brain/awab260Test

مصطلحات موضوعية: GAMMA-2-SUBUNIT, HIPPOCAMPAL SCLEROSIS, CHANNELS, genome-wide association study, Fever, MUTATIONS, 3112 Neurosciences, Anoctamins, ABSENCE EPILEPSY, PROTEIN, VARIANTS, Seizures, Febrile, 3124 Neurology and psychiatry, NAV1.1 Voltage-Gated Sodium Channel, Child, Preschool, Humans, epilepsy, febrile seizures, neuronal excitability genes, Neurology (clinical), Child, fever response genes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e9d8a7636af6e25d540f1c93d88c4c7Test
https://doi.org/10.1093/brain/awab260Test

المؤلفون: Jim Buttery, Michael Gold, Amy L Schneider, Nicholas Wood, Lucy Deng, John A. Damiano, Wenhui Li, Rosemary Burgess, Samuel F. Berkovic, Kristine Macartney, Peter Richmond, Michael S. Hildebrand, Ingrid E. Scheffer, Nigel W Crawford

المصدر: Annals of Neurology. 87:281-288

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Influenza vaccine, Seizures, Febrile, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dravet syndrome, Febrile seizure, medicine, Humans, Genetic Predisposition to Disease, Prospective Studies, Prospective cohort study, Vaccines, business.industry, Case-control study, Infant, Odds ratio, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Vaccination, 030104 developmental biology, Neurology, Case-Control Studies, Child, Preschool, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dcd413f22de87054d8006a9562bbcc7Test
https://doi.org/10.1002/ana.25650Test

المؤلفون: Manju A Kurian, Rosemary Burgess, Yue-Hua Zhang, Shuyu Wang, Heather C. Mefford, Katja E. Boysen, Lynette G. Sadleir, Xiaoling Yang, Marina Trivisano, Amy McTague, Qi Zeng, Ingrid E. Scheffer, Renzo Guerrini, Nicola Specchio, Anne Rochtus, Annapurna Poduri, Deepak Gill, Kenneth A. Myers, Carla Marini

المصدر: Ann Neurol

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Microcephaly, Movement disorders, Adolescent, Article, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, ATP1A3, Humans, Medicine, Genetic Predisposition to Disease, Child, business.industry, BRAT1, Genetic heterogeneity, Infant, medicine.disease, Epileptic spasms, 030104 developmental biology, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48326ba29d6802cf66d0057fc6d386eTest
https://doi.org/10.1002/ana.25619Test

المؤلفون: Orrin Devinsky, Samuel F. Berkovic, Catharine Freyer, Annapurna Poduri, Eric B. Geller, Amos D. Korczyn, Heidi E. Kirsch, Nathan B. Fountain, Rosemary Burgess, Jack M. Parent, Jocelyn F. Bautista, Susannah T. Bellows, Robert C. Knowlton, David Goldstein, Dennis J. Dlugos, Heather C Mefford, Anthony G Marson, Mike Smith, Sabrina Cristofaro, Erin L. Heinzen, Bassel Abou-Khalil, Michael P. Epstein, Douglas E. Crompton, Eileen P.G. Vining, Kevin McKenna, Steven Petrou, Anu Venkat, Eric H. Kossoff, Gretchen Von Allmen, Sheryl R. Haut, Ruben Kuzniecky, Juliann M. Paolicchi, Colin A Ellis, Rani K. Singh, Simon Glynn, Daniel H. Lowenstein, Liu Lin Thio, Lynette G. Sadleir, Rebecca Loeb, Norman Delanty, Terence J. O'Brien, Paul V. Motika, Peter Widdess-Walsh, Sara Kivity, Gregory D. Cascino, Slavé Petrovski, Ruth Ottman, Micheline Gravel, Andrew S. Allen, Jerry J. Shih, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Tracy A. Glauser, Judith L.Z. Weisenberg, Judith Bluvstein, Zaid Afawi, Phil Smith, Kevin F. Haas, Mark McCormack, Hadassa Goldberg-Stern, Sarah Paterson, Melodie R. Winawer, Mark I. Rees, Saul A. Mullen, Patrick Cossette, Rhys H. Thomas

المصدر: Epilepsia

مصطلحات موضوعية: Male, 0301 basic medicine, Concordance, Electroencephalography, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Medical history, Generalized epilepsy, medicine.diagnostic_test, Seizure types, business.industry, Family aggregation, medicine.disease, Latent class model, Pedigree, Phenotype, 030104 developmental biology, Neurology, Latent Class Analysis, Female, Neurology (clinical), business, Epileptic Syndromes, 030217 neurology & neurosurgery, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be0a227c5e6f4209ee0d125e80b4851Test
https://doi.org/10.1111/epi.16354Test

المؤلفون: Wenshu XiangWei, Grazia M.S. Mancini, Michael S. Hildebrand, G. Christoph Korenke, Federico Sicca, Candace T. Myers, Johanna M. van Hagen, Stephen M. Malone, Ingrid E. Scheffer, Richard Webster, Han Xie, Conny M. A. van Ravenswaaij-Arts, Renate M Kalnins, Heather C Mefford, Rosemary Burgess, Danielle Williams, Davide Mei, Samuel F. Berkovic, Tyson L Ware, Alice S. Brooks, Saskia M. Maas, Renzo Guerrini, Danique R.M. Vlaskamp, Martino Montomoli, Ingrid M.B.H. van de Laar, Benjamin J. Shaw, Yuwu Jiang, Mark F. Bennett

المساهمون: Amsterdam Reproduction & Development (AR&D), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Human Genetics, Clinical Genetics

المصدر: Neurology, 92(2), E96-E107. Lippincott Williams and Wilkins
Neurology, 92(2), E96-E107. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 92(2), E96-E107. Lippincott Williams & Wilkins

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, INTELLECTUAL DISABILITY, GENES, Ataxia, Encephalopathy, Context (language use), DIAGNOSIS, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, ABSENCES, medicine, GTPASE-ACTIVATING PROTEIN, 030212 general & internal medicine, AUTISM, Atonic seizure, SPECTRUM, Seizure types, business.industry, EYELID MYOCLONIA, medicine.disease, Hypotonia, Drop attack, DE-NOVO MUTATIONS, Neurology (clinical), medicine.symptom, business, FORM, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6c6584f837d6083b462a71ee79662bTest
https://doi.org/10.1212/wnl.0000000000006729Test

المؤلفون: Julie Werenberg Dreier, Michael S. Hildebrand, Jakob Grove, Preben Bo Mortensen, Bjurström Cf, René Nielsen K, Ole Mors, Line Skotte, Bjarni J. Vilhjálmsson, Thomas Hansen, Matthew Coleman, Appadurai, Tune H. Pers, Samuel F. Berkovic, Mads Melbye, Vesterager Pedersen Ob, Bjarke Feenstra, Clara Albinana Climent, Jonas Bybjerg-Grauholm, Ingrid E. Scheffer, Frank Geller, Anders D. Børglum, Karina Banasik, Mie Topholm Bruun, Jakob Christensen, John A. Damiano, Erik Sørensen, David Westergaard, Alfonso Buil, Henrik Ullum, David M. Hougaard, Anders Hviid, Merete Nordentoft, Xueping Liu, Rosemary Burgess, Thomas Werge, Helle Hjalgrim, João Fadista, Christian Erikstrup

مصطلحات موضوعية: 0303 health sciences, biology, Genome-wide association study, medicine.disease, Synapse, 03 medical and health sciences, Epilepsy, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Febrile seizure, Immunology, biology.protein, medicine, Neurotransmitter, Gene, Pathological, 030217 neurology & neurosurgery, 030304 developmental biology, GABRG2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::95150e5377acc77da7994a69653aabcdTest
https://doi.org/10.1101/2020.11.18.20233916Test

المؤلفون: Mark F. Bennett, Michael S. Hildebrand, Sayaka Kayumi, Mark A. Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J. Henry, John A. Damiano, Amber Boys, Jozef Gécz, Melanie Bahlo, Ingrid E. Scheffer, Samuel F. Berkovic

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: Neurology (clinical), Article, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bbbddd570cd9dcf54fd7c0a98e4d56dTest
https://doi.org/10.1212/nxg.0000000000000652Test

المؤلفون: Rosemary Burgess, John A. Damiano, Samuel F. Berkovic, Michael S. Hildebrand, Alexander Dobrovic, Renate M Kalnins, Ezgi Ozturk, Hongdo Do, Nigel C. Jones

المصدر: Epileptic Disorders. 19:450-455

مصطلحات موضوعية: Adult, 0301 basic medicine, Drug Resistant Epilepsy, Somatic cell, Classical Lissencephalies and Subcortical Band Heterotopias, Biology, Real-Time Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Intellectual Disability, Tissue mosaicism, Humans, Language Development Disorders, Digital polymerase chain reaction, Mutation frequency, Genetics, Mutagenesis, General Medicine, Phenotype, 030104 developmental biology, Neurology, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Mutation, Mutation (genetic algorithm), Female, Epilepsies, Partial, Neurology (clinical), Microtubule-Associated Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6010f3d82e5d9a7aae390ab9fc592948Test
https://doi.org/10.1684/epd.2017.0944Test

المؤلفون: Ingrid E. Scheffer, Peter Nürnberg, A. Marie Phillips, Slavé Petrovski, Michael S. Hildebrand, Samuel F. Berkovic, Judith L.Z. Weisenberg, Rosemary Burgess, Melody Li, Federico Zara, Christopher A. Reid, Therese Mount, Holger Lerche, Steven Petrou, Liu Lin Thio, Pasquale Striano, Julian Schubert, Holger Thiele, Michael Wong, Snezana Maljevic

المصدر: Human Mutation. 39:202-209

مصطلحات موضوعية: Male, 0301 basic medicine, DNA, Complementary, febrile seizures, HCN channels, spike-and-wave discharges, thalamo-cortical networks, Population, Disease, Models, Biological, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Genetics, CACNA1H, medicine, Humans, Missense mutation, education, Genetics (clinical), education.field_of_study, biology, medicine.disease, Pedigree, Electrophysiology, 030104 developmental biology, Gain of Function Mutation, Epilepsy syndromes, biology.protein, Epilepsy, Generalized, Female, Juvenile myoclonic epilepsy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2355902717afe2a70722b5055e5be9Test
https://doi.org/10.1002/humu.23357Test

المؤلفون: Samuel F. Berkovic, Andrew Bleasel, Hadassa Goldberg-Stern, Bronwyn E. Grinton, Sara Kivity, Leanne M. Dibbens, Elizabeth K. Ruzzo, John A. Damiano, Lata Vadlamudi, Zaid Afawi, Georgie C. Glubb, Jodie P. Malone, Rosemary Burgess, Padraic Grattan-Smith, Yue-Hua Zhang, Danya F. Vears, Katherine L. Helbig, Amos D. Korczyn, Ingrid E. Scheffer, Susannah T. Bellows, Michael S. Hildebrand

المصدر: Neurology. 89:1210-1219

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Seizures, Febrile, Genetic epilepsy, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, medicine, Humans, Age of Onset, Focal Epilepsies, Generalized epilepsy, Child, business.industry, Infant, Genetic data, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Child, Preschool, Immunology, Epilepsy, Generalized, Female, Epilepsies, Partial, Neurology (clinical), Age of onset, business, Generalized epilepsy with febrile seizures plus, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18390db2eb361bf30fba2f9cd97e9d43Test
https://doi.org/10.1212/wnl.0000000000004384Test