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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 -
2
المصدر: Epilepsia. 59:1676-1683
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neuroimaging, Computed tomography, Logistic regression, Head trauma, 03 medical and health sciences, 0302 clinical medicine, Seizures, Humans, Medicine, In patient, 030212 general & internal medicine, Physical Examination, Aged, Retrospective Studies, medicine.diagnostic_test, business.industry, Emergency department, Middle Aged, Logistic Models, Neurology, Seizure Disorders, Female, Neurology (clinical), Emergency Service, Hospital, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1a8384329cf20b0cc0d309d99a4cd9Test
https://doi.org/10.1111/epi.14518Test -
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المؤلفون: Paul V. Motika
المصدر: Neurology. 85:e66-e68
مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, business.industry, medicine, Neurology (clinical), medicine.disease, business, Stroke
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ee44cb7c9fcc33eaeb4a72f136ee3de6Test
https://doi.org/10.1212/wnl.0000000000001921Test -
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المؤلفون: Andrew S Allen, Susannah T Bellows, Samuel F Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P Epstein, Catharine Freyer, David B Goldstein, Erin L Heinzen, Michael S Hildebrand, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Anthony G Marson, Richard Mayeux, Caroline Mebane, Heather C Mefford, Terence J O'Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Ingrid E Scheffer, Graeme J Sills, Rhys H Thomas, Quanli Wang, Bassel Abou-Khalil, Brian K Alldredge, Dina Amrom, Eva Andermann, Frederick Andermann, Jocelyn F. Bautista, Judith Bluvstein, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Lynette G Sadleir, Renée A. Shellhaas, Elliott H Sherr, Jerry J. Shih, Shlomo Shinnar, Rani K Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer
المساهمون: Imperial College Healthcare NHS Trust- BRC Funding
المصدر: The Lancet. Neurology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Population, Disease, Bioinformatics, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Epilepsy Phenome/Genome Project, Genetic variation, medicine, Humans, Exome, Genetic Predisposition to Disease, education, Psychiatry, education.field_of_study, Neurology & Neurosurgery, business.industry, Genetic Variation, 1103 Clinical Sciences, Sequence Analysis, DNA, medicine.disease, Comorbidity, R1, 030104 developmental biology, Case-Control Studies, Epilepsy syndromes, Epilepsy, Generalized, Epilepsies, Partial, Neurology (clinical), 1109 Neurosciences, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72fdd521cdd0a2e7dbb4097ff8a65438Test
https://eprints.gla.ac.uk/172544/1/172544.pdfTest -
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المؤلفون: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo
المساهمون: Neuroscience Center, Research Programs Unit, Department of Medical and Clinical Genetics, Research Programme for Molecular Neurology, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project, Epi4K Consortium
المصدر: The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013Testمصطلحات موضوعية: 0301 basic medicine, Male, Proband, INTELLECTUAL DISABILITY, Type I, Bioinformatics, medicine.disease_cause, Infantile, Synaptic Transmission, Spasms, Cohort Studies, Epilepsy, 0302 clinical medicine, Receptors, SCHIZOPHRENIA, STXBP1, Exome, Gene Regulatory Networks, Protein Interaction Maps, Dynamin I, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, Medicine (all), Genome project, Fatty Acid Synthase, Type I, Fatty Acid Synthase, Female, APHASIA, Spasms, Infantile, DYNAMIN-1, EPILEPSIES, ENDOCYTOSIS, Population, SPECTRUM DISORDERS, Phenome, Neurotransmission, Biology, GNAO1, Article, 03 medical and health sciences, GRIN2A MUTATIONS, medicine, Humans, AUTISM, Infant, Newborn, Lennox Gastaut Syndrome, Receptors, GABA-B, Ryanodine Receptor Calcium Release Channel, education, Gene, De novo mutations, 030304 developmental biology, GABA-B, 3112 Neurosciences, Infant, Correction, Newborn, medicine.disease, Human genetics, 030104 developmental biology, DNM1, PATTERNS, Human medicine, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5621084f9d64cf23e269c01040b9b090Test
https://pubmed.ncbi.nlm.nih.gov/25262651Test -
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المؤلفون: Eileen P.G. Vining, Patrick Cossette, Mike Smith, P. E. M. Smith, Zaid Afawi, G. D. Cascino, Jocelyn F. Bautista, EJ Cops, Robert C. Knowlton, Tracy A. Glauser, Anu Venkat, Peter Widdess-Walsh, Sara Kivity, Mark I. Rees, Kevin McKenna, Amos D. Korczyn, Douglas E. Crompton, Saul A. Mullen, Heidi E. Kirsch, Nathan B. Fountain, Sheryl R. Haut, Slavé Petrovski, Andrew S. Allen, Sarah I. Garry, Anthony G Marson, Bassel Abou-Khalil, Rhys H. Thomas, Jerry J. Shih, Michael P. Epstein, Eric H. Kossoff, Winawer, Liu Lin Thio, Daniel H. Lowenstein, Dennis J. Dlugos, Rosemary Burgess, Eric B. Geller, Micheline Gravel, Jack M. Parent, Simon Glynn, Norman Delanty, Rebecca Loeb, Terence J. O'Brien, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Judith L.Z. Weisenberg, Mark McCormack, Erin L. Heinzen, Judith Bluvstein, David Goldstein, Hadassa Goldberg-Stern, Sarah Paterson, Rinki Singh, Sabrina Cristofaro, Ruth Ottman, Susannah T. Bellows, R. Kuzniecky, Paul V. Motika, Heather C Mefford, Catharine Freyer, Annapurna Poduri, Juliann M. Paolicchi, Orrin Devinsky, Kevin Haas, Samuel F. Berkovic, Von, Allmen, G, Lynette G. Sadleir
مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Idiopathic generalized epilepsy, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Sex Factors, medicine, Humans, Generalized epilepsy, Age of Onset, Child, Genetics, Family Health, business.industry, Family aggregation, Original Articles, medicine.disease, Pedigree, Rolandic epilepsy, 030104 developmental biology, Phenotype, Child, Preschool, Epilepsy syndromes, Epilepsy, Generalized, Female, Neurology (clinical), Juvenile myoclonic epilepsy, Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867f4cc029d003ee18e1be0cfd54d18bTest
https://cronfa.swan.ac.uk/Record/cronfa34711/Download/34711__17853__8813e43263704468ac9f1a6b73e2cbb7.pdfTest -
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المؤلفون: David C. Spencer, Paul V. Motika
المصدر: Current Neurology and Neuroscience Reports. 16
مصطلحات موضوعية: Drug, medicine.medical_specialty, Neurology, media_common.quotation_subject, Population, Comorbidity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Older patients, Seizures, medicine, Humans, Drug Interactions, 030212 general & internal medicine, Dosing, Adverse effect, education, Psychiatry, Intensive care medicine, Aged, media_common, education.field_of_study, business.industry, General Neuroscience, Treatment options, medicine.disease, Anticonvulsants, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b837b19388d1501c09e95e5da6a2cda5Test
https://doi.org/10.1007/s11910-016-0696-8Test -
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المؤلفون: Paul V, Motika
المصدر: Neurology. 85(8)
مصطلحات موضوعية: Stroke, Time Factors, Seizures, Humans, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Brain Ischemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c11361c38e2413c9a9d94b887fa0c67dTest
https://pubmed.ncbi.nlm.nih.gov/26304684Test