المؤلفون: Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)

مصطلحات موضوعية: developmental and epileptic encephalopathy, incidence, whole exome sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2470-9239Test

الوصول الحر: https://doaj.org/article/9380e8af0ae643929c694264aa7cbbd3Test

المؤلفون: Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic

مصطلحات موضوعية: Uncategorized, GNAQR183Q mutation, Sturge-Weber syndrome, forme fruste SWS, epilepsy

العلاقة: https://figshare.com/articles/journal_contribution/Somatic_GNAQ_mutation_in_the_forme_fruste_of_Sturge-Weber_syndrome/22920797Test

الإتاحة: https://doi.org/10.26181/22920797.v1Test
https://figshare.com/articles/journal_contribution/Somatic_GNAQ_mutation_in_the_forme_fruste_of_Sturge-Weber_syndrome/22920797Test

المؤلفون: Zimeng Ye (3636643), Zac Chatterton (3698380), Jahnvi Pflueger (10688781), John A Damiano (10688784), Lara McQuillan (10688787), Anthony Simon Harvey (10688790), Stephen Malone (6100019), Hongdo Do (92614), Wirginia Maixner (10688793), Amy Schneider (556109), Bernadette Nolan (10688796), Martin Wood (7231976), Wei Shern Lee (10688799), Greta Gillies (10688802), Kate Pope (451942), Michael Wilson (251188), Paul J Lockhart (10688805), Alexander Dobrovic (9477641), Ingrid E Scheffer (10577391), Melanie Bahlo (54258), Richard J Leventer (10688808), Ryan Lister (3321111), Samuel F Berkovic (10577323), Michael S Hildebrand (10688811)

مصطلحات موضوعية: Uncategorized, cell-free DNA, cerebrospinal fluid, focal epilepsy, liquid biopsy, somatic mutations

العلاقة: https://figshare.com/articles/journal_contribution/Cerebrospinal_fluid_liquid_biopsy_for_detecting_somatic_mosaicism_in_brain/14470998Test

الإتاحة: https://doi.org/10.26181/608f3b51663cbTest

المؤلفون: Jillian M. Cameron, John A. Damiano, Bronwyn Grinton, Patrick W. Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E. Scheffer, Karen L. Oliver, Michael S. Hildebrand, Samuel F. Berkovic

المصدر: Epilepsia.

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31d76c4b8fba158b9e6bd15e5c313861Test
https://doi.org/10.1111/epi.17616Test

المؤلفون: Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand

المصدر: Hum Mol Genet

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Hamartoma, Genetics, Humans, Original Article, Hedgehog Proteins, General Medicine, Magnetic Resonance Imaging, Molecular Biology, Ciliopathies, Hypothalamic Diseases, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c335523fad181bfe5a044bcac20cd8eTest
https://doi.org/10.1093/hmg/ddab366Test

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: Luca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino, Yu Chi Liu, Caitlin A Bennett, Mark F Bennett, John A Damiano, Gábor Zsurka, Caterina Marconi, Tania Giangregorio, Pamela Magini, Marijn Kuijpers, Tanja Maritzen, Giuseppe Danilo Norata, Stéphanie Baulac, Laura Canafoglia, Marco Seri, Paolo Tinuper, Ingrid E Scheffer, Melanie Bahlo, Samuel F Berkovic, Michael S Hildebrand, Wolfram S Kunz, Lucio Giordano, Francesca Bisulli, Miriam Martini, Volker Haucke, Emilio Hirsch, Tommaso Pippucci

المساهمون: Gozzelino L., Kochlamazashvili G., Baldassari S., Mackintosh A.I., Licchetta L., Iovino E., Liu Y.-C., Bennett C.A., Bennett M.F., Damiano J.A., Zsurka G., Marconi C., Giangregorio T., Magini P., Kuijpers M., Maritzen T., Norata G.D., Baulac S., Canafoglia L., Seri M., Tinuper P., Scheffer I.E., Bahlo M., Berkovic S.F., Hildebrand M.S., Kunz W.S., Giordano L., Bisulli F., Martini M., Haucke V., Hirsch E., Pippucci T.

مصطلحات موضوعية: PI3K-C2B, class II PI3K, epilepsy, mTOR, variants, Animals, Humans, Lipids, Mechanistic Target of Rapamycin Complex 1, Mice, Mutation, Phosphatidylinositol 3-Kinases, Seizures, Class II Phosphatidylinositol 3-Kinases, Epilepsies, Partial, Epilepsies, Animal, Lipid, Seizure, variant, Class II Phosphatidylinositol 3-Kinase, Settore BIO/14 - Farmacologia, Neurology (clinical), Phosphatidylinositol 3-Kinase, Human, Partial

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9587291da24e2aa9d2fa08dfdd6ec29bTest
https://hdl.handle.net/2434/935471Test

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: Alexander Rosenfeld, D. L. Jones, Shannon R. Huskins, Katherine B. Howell, Michael Harvey, Simone Mandelstam, Jeremy L. Freeman, Ingrid E. Scheffer, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Jacinta M McMahon, Richard J. Leventer, Danae Andreopoulos-Malikotsinas, Yu Chi Liu, Michael S. Hildebrand, A. Simon Harvey, Mark F. Bennett, Mark T Mackay, John A. Damiano, Tyson L Ware

المصدر: Epilepsia Open
Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Candidate gene, Genetic counseling, Population, lcsh:RC346-429, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Short Research Article, developmental and epileptic encephalopathy, education, lcsh:Neurology. Diseases of the nervous system, Exome sequencing, 030304 developmental biology, Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, business.industry, Incidence (epidemiology), Neurology, incidence, Etiology, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cea59936cda1ed70248aeadf53e34a3Test
https://doi.org/10.1002/epi4.12350Test

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