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: 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

المؤلفون: Karen Oliver, Rosemary Burgess, Melanie Bahlo, Saskia Freytag

المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-9 (2017)
Genome Medicine

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Systems biology, lcsh:Medicine, Computational biology, Disease, Biology, Bioinformatics, Sensitivity and Specificity, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, KEGG, Molecular Biology, Gene, Genetics (clinical), Gene Expression Profiling, lcsh:R, Brain, Computational Biology, Human brain, Human genetics, Gene expression profiling, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Molecular Medicine, Identification (biology), Transcriptome, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84436a196ef7e6b34556dbd588b49ec4Test
http://link.springer.com/article/10.1186/s13073-017-0444-yTest

المؤلفون: Rosemary Burgess, John A. Damiano, Zaid Afawi, Ingrid E. Scheffer, Tally Lerman-Sagie, Samuel F. Berkovic, Michael S. Hildebrand, Sara Kivity

المصدر: Epilepsia. 58:e40-e43

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Genetic counseling, DNA Mutational Analysis, Nonsense mutation, Biology, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Aphasia, medicine, Humans, Adaptor Proteins, Signal Transducing, Family Health, Genetics, Point mutation, Infant, Electroencephalography, medicine.disease, Phenotype, 030104 developmental biology, Neurology, Mutation, Mutation (genetic algorithm), Speech delay, Female, CNKSR2, Neurology (clinical), medicine.symptom, Sleep, Spasms, Infantile, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d191f4d52efbc7c7345ad34b864c11Test
https://doi.org/10.1111/epi.13666Test

المؤلفون: Simone Mandelstam, Graeme D. Jackson, Ingrid E. Scheffer, Michal Schneider, Shawna Farquharson, Fernando Calamante, Jacques-Donald Tournier, Alan Connelly, Samuel F. Berkovic, Rosemary Burgess

المصدر: Farquharson, S, Tournier, J-D, Calamante, F, Mandelstam, S, Burgess, R, Schneider, M E, Berkovic, S F, Scheffer, I E, Jackson, G D & Connelly, A 2016, ' Periventricular Nodular Heterotopia : Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography ', Radiology, pp. 150852 . https://doi.org/10.1148/radiol.2016150852Test

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Filamins, White matter, Young Adult, 03 medical and health sciences, Periventricular Nodular Heterotopia, medicine, Humans, Radiology, Nuclear Medicine and imaging, Prospective Studies, Aged, Epilepsy, medicine.diagnostic_test, business.industry, Infant, Magnetic resonance imaging, Middle Aged, Control subjects, medicine.disease, Mr imaging, Diffusion Magnetic Resonance Imaging, Diffusion Tensor Imaging, 030104 developmental biology, medicine.anatomical_structure, Heterotopia (medicine), Mutation, Female, Radiology, business, Nuclear medicine, Tractography, Diffusion MRI

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb633048616c348320d17da303bd6fe4Test
https://doi.org/10.1148/radiol.2016150852Test

المؤلفون: Nigel C. Jones, David Goldstein, Michael S. Hildebrand, John A. Damiano, John F. Kerrigan, Ezgi Ozturk, Benjamin W. Darbro, Erin L. Heinzen, Lynette G. Sadleir, Nicole G. Griffin, Heather J. Major, Rosemary Burgess, Jeremy L. Freeman, Richard J. Leventer, Andrew S. Allen, A. Simon Harvey, Ingrid E. Scheffer, Samuel F. Berkovic, Elisa J. Cops

المصدر: The American Journal of Human Genetics. 99:423-429

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, animal structures, Hamartoma, Kruppel-Like Transcription Factors, Loss of Heterozygosity, Nerve Tissue Proteins, Zinc Finger Protein Gli2, 03 medical and health sciences, 0302 clinical medicine, Hypothalamic hamartoma, Zinc Finger Protein Gli3, Report, GLI2, GLI3, Genetics, Humans, Exome, Hedgehog Proteins, Genetics(clinical), Sonic hedgehog, Genetics (clinical), Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, biology, Wnt signaling pathway, Nuclear Proteins, CREB-Binding Protein, Hedgehog signaling pathway, 3. Good health, PRKACA, 030104 developmental biology, Mutation, embryonic structures, Cancer research, biology.protein, Female, Epilepsies, Partial, Hypothalamic Diseases, 030217 neurology & neurosurgery, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88afd92b1f26ae01f46200875d2839e7Test
https://doi.org/10.1016/j.ajhg.2016.05.031Test