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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 -
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المؤلفون: Herm J Lamberink, Willem M Otte, Ingmar Blümcke, Kees P J Braun, Martin Aichholzer, Isabel Amorim, Javier Aparicio, Eleonora Aronica, Alexis Arzimanoglou, Carmen Barba, Jürgen Beck, Albert Becker, Jan C Beckervordersandforth, Christian G Bien, Istvan Bodi, Kees PJ Braun, Helene Catenoix, Francine Chassoux, Mathilde Chipaux, Thomas Cloppenborg, Roland Coras, J Helen Cross, Luca De Palma, Jane De Tisi, Francesco Deleo, Bertrand Devaux, Giancarlo Di Gennaro, Georg Dorfmüller, John S Duncan, Christian Elger, Katharina Ernst, Vincenzo Esposito, Martha Feucht, Zeljka Petelin Gadze, Rita Garbelli, Karin Geleijns, Antonio Gil-Nagel, Alexander Grote, Thomas Grunwald, Renzo Guerrini, Hajo Hamer, Mrinalini Honavar, Thomas S Jacques, Antonia Jakovcevic, Leena Jutila, Adam Kalina, Reetta Kälviäinen, Karl Martin Klein, Kristina Koenig, Pavel Krsek, Manfred Kudernatsch, Martin Kudr, Kristina Malmgren, Petr Marusic, Armen Melikyan, Katja Menzler, Soheyl Noachtar, Çiğdem Özkara, Tom Pieper, Jose Pimentel, Savo Raicevic, Sylvain Rheims, Joana Ribeiro, Felix Rosenow, Karl Rössler, Bertil Rydenhag, Francisco Sales, Victoria San Antonio-Arce, Karl Lothar Schaller, Olaf Schijns, Theresa Scholl, Johannes Schramm, Andreas Schulze-Bonhage, Raf Sciot, Margitta Seeck, Lyudmila Shishkina, Dragoslav Sokic, Nicola Specchio, Tom Theys, Maria Thom, Rafael Toledano Delgado, Joseph Toulouse, Mustafa Uzan, Johannes van Loon, Wim Van Paesschen, Tim J von Oertzen, Floor Jansen, Frans Leijten, Peter van Rijen, Wim GM Spliet, Angelika Mühlebner, Burkhard S Kasper, Susanne Fauser, Tilman Polster, Thilo Kalbhenn, Daniel Delev, Andrew McEvoy, Anna Miserocchi, Elisabeth Landré, Bares Turak, Pascale Varlet, Sarah Ferrand-Sorbets, Martine Fohlen, Christine Bulteau, Anna Edelvik, Mukesch J Shah, Christian Scheiwe, Eva Gutierrez Delicado, Martin Tisdall, Christin Eltze, Serdar Akkol, Kaancan Deniz, Buge Oz, Hans Holthausen, Till Hartlieb, Martin Staudt, Sara Casciato, Pier P Quarato, Felice Giangaspero, Nathalie Streichenberger, Marc Guenot, Jean Isnard, Antonio Valentijn, Amanda Chang, Nandini Mullatti, Josef Zamecnik, Jana Zarubova, Martin Tomasek, Arto Immonen, Anni Saarela, Tuomas Rauramaa, Johannes A Lobrinus, Kristof Egervari, Shahan Momjian, Elisabeth Harti, Hannah Lohr, Judith Kroell, Lynn Vermeulen, Evy Cleeren, Pavel Vlasov, Antonia Kozlova, Alexey Vorobyev, Gudrun Goeppel, Sharon Samueli, Thomas Czech, Johannes Hainfellner, Gertraud Puttinger, Gabriele Schwarz, Harald Stefanits, Serge Weis, Roberto Spreafico, Flavio Villani, Laura Rossini, Anke Hermsen, Susanne Knake, Christopher Nimsky, Barbara Carl, Anezka Belohlavkova, Barbora Benova, Jeroen Bisschop, Albert Colon, Vivianne van Kranen-Mastenbroek, Rob PW Rouhl, Govert Hoogland, Jordi Rumiá, Alia Ramírez-Camacho, Santiago Candela-Cantó, Karine Ostrowsky-Coste, Eleni Panagiotakaki, Alexandra Montavont, Pascale Keo Kosal, Zeynep Gokce-Samar, Clara Milleret, Anna M Buccoliero, Flavio Giordano, Vlatko Sulentic, Goran Mrak, Andrej Desnica, Giusy CarfíPavia, Alessandro De Benedictis, Carlo E Marras, Vladimir Bascarevic, Nikola Vojvodic, Aleksandar Ristic, Olinda Rebelo, Angel Aledo-Serrano, Irene Garcia-Morales, Carla Anciones
المساهمون: RS: MHeNs - R3 - Neuroscience, MUMC+: MA Med Staf Spec Neurochirurgie (9), RS: GROW - R2 - Basic and Translational Cancer Biology, MUMC+: DA Pat Pathologie (9), Pathology, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms, Schaller, Karl Lothard
المصدر: Lancet Neurology, 19(9), 748-757. Elsevier Science
Lancet neurology, 19(9), 748-757. Lancet Publishing Group
The Lancet Neurology, Vol. 19, No 9 (2020) pp. 748-757مصطلحات موضوعية: Adult, Male, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Adolescent, Drug Resistant Epilepsy/drug therapy/pathology/surgery, Cohort Studies, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, medicine, Humans, Epilepsy surgery, seizure outcome, epilepsy surgery, antiepileptic drugs, histopathological diagnosis, Longitudinal Studies, 030212 general & internal medicine, Young adult, Child, Preschool, Aged, Retrospective Studies, Hippocampal sclerosis, business.industry, Anticonvulsants/therapeutic use, Vascular malformation, Infant, SUCCESS, Retrospective cohort study, Middle Aged, Cortical dysplasia, medicine.disease, ddc:616.8, Treatment Outcome, Child, Preschool, Anticonvulsants, Female, Seizures/drug therapy/pathology/prevention & control, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c1f677cba833117000f872b9920f7eTest
https://www.bib.irb.hr/1242983Test -
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المؤلفون: Pasquale Striano, Elena Freri, Lucia Fusco, Carlo Avolio, Domenica Battaglia, Renzo Guerrini, Nicola Specchio, Marina Trivisano, Tommaso Martino, Clementina Boniver, Luca De Palma, Caterina Zanus, Federico Vigevano, Raffaella Cusmai, Federico Sicca, Stefania Maria Bova, Davide Mei, Elena Zambrelli, Maria Paola Canevini, Marilena Vecchi, Lucio Giordano, Carla Marini, Simona Cappelletti, Enrico Bertini, Alessandra Terracciano, Luigi Maria Specchio, Annarita Ferrari, Francesca Darra, Tiziana Granata, Massimo Mastrangelo, Lorella Caffi, Paola Costa, Ilaria Tondo, Bernardo Dalla Bernardina, Patrizia Accorsi, Elisabetta Cesaroni, Nicola Pietrafusa, Lucio Parmeggiani, Nelia Zamponi, Francesca Ragona
مصطلحات موضوعية: 0301 basic medicine, focal epilepsy, Male, Pediatrics, PCDH19, Electroencephalography, Cohort Studies, Epilepsy, 0302 clinical medicine, Intellectual disability, epileptic encephalopathy, genetic epilepsy, genotype-phenotype correlation, Age of Onset, Child, medicine.diagnostic_test, Cadherins, Phenotype, Treatment Outcome, Neurology, Child, Preschool, Female, medicine.symptom, Cohort study, Adult, medicine.medical_specialty, Adolescent, Status epilepticus, 03 medical and health sciences, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Seizures, Intellectual Disability, medicine, Humans, Autistic Disorder, Preschool, Retrospective Studies, business.industry, Infant, Retrospective cohort study, Gene rearrangement, medicine.disease, Protocadherins, 030104 developmental biology, Autism, Neurology (clinical), business, Epileptic Syndromes, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2edd0a04e7f797e0221ed9ca780d9db0Test
https://hdl.handle.net/10807/161897Test -
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المؤلفون: Elena Gardella, Diane Doummar, Orrin Devinsky, Nicola Specchio, Holly Dubbs, Lance H. Rodan, Caroline Nava, Elise Schaefer, Jessica E. Shaw, Desiree Czapansky-Beilman, Tarja Linnankivi, Rikke S. Møller, Helenius J. Schelhaas, Kathrine L. Helbig, Jakob Christensen, Jamel Chelly, Gemma L. Carvill, Sarah E. Hopkins, Sara Chadwick Reichert, Marina Trivisano, Amélie Piton, Candace T. Myers, Pasquale Striano, Katrine M Johannesen, Alexandra Afenjar, Judith S. Verhoeven, John Millichap, Yongjin Yoo, Oriano Mecarelli, Murim Choi, Jong Hee Chae, Joseph G. Gleeson, Heather C Mefford, Gaetan Lesca, Laura Pisani, Boris Keren, Sha Tang, Marie Thérèse Abi-Warde, Carolina Courage, Ingo Helbig, Deb K. Pal, Guido Rubboli, Lynne M. Bird, Manuela Pendziwiat, Cyril Mignot, Shan Tang, J. Lawrence Merritt, Yvonne G. Weber, Anna-Elina Lehesjoki, Wen-Hann Tan, Anne de Saint Martin, Mark Nespeca
المساهمون: University of Southern Denmark (SDU), CHU Strasbourg, Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Boston Children's Hospital, Seoul National University [Seoul] (SNU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), University of Genoa (UNIGE), Children’s Hospital of Philadelphia (CHOP )
المصدر: Epilepsia
Epilepsia, Wiley, 2018, 32 (2), pp.389-402. ⟨10.1111/epi.13986⟩
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Rubboli, G & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986Test
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A-E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M-T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W-H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J-H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Helbig, I, Rubboli, G, Mefford, H C & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986Test
Epilepsia, vol 59, iss 2مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Epilepsies, Myoclonic, Epilepsies, Neurodegenerative, Epilepsies, Myoclonic/complications, Intellectual Disability/complications, Cohort Studies, Epilepsy, 0302 clinical medicine, 2.1 Biological and endogenous factors, Neurodevelopmental Disorders/complications, Aetiology, Valproic Acid/therapeutic use, Child, Atonic seizure, Ataxia/complications, Seizure types, Anticonvulsants/therapeutic use, Electroencephalography, MAE, Language Development Disorders/complications, Phenotype, Treatment Outcome, Neurology, Child, Preschool, Neurological, Speech delay, Anticonvulsants, Epilepsy, Generalized, Female, medicine.symptom, Partial, Adult, GABA Plasma Membrane Transport Proteins, medicine.medical_specialty, SLC6A1, epilepsy, epilepsy genetics, Adolescent, Epilepsies, Partial/complications, Epilepsy, Generalized/complications, Clinical Sciences, Mutation, Missense, GABA Plasma Membrane Transport Proteins/genetics, Status epilepticus, Article, Young Adult, 03 medical and health sciences, Childhood absence epilepsy, Clinical Research, Intellectual Disability, Behavioral and Social Science, Genetics, medicine, Humans, Language Development Disorders, Generalized epilepsy, Preschool, Genetic Association Studies, Neurology & Neurosurgery, Generalized, business.industry, Valproic Acid, Neurosciences, medicine.disease, Brain Disorders, 030104 developmental biology, Myoclonic astatic epilepsy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Mutation, Ataxia, Epilepsies, Partial, Neurology (clinical), Missense, Myoclonic, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d17b86f7659d7ea2518638ed36fe82Test
http://hdl.handle.net/11573/1076617Test -
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المؤلفون: Maurizio Viri, Nicola Specchio, Angela Robbiano, Marilena Vecchi, Federico Vigevano, Viviana Cardilli, Anna Maria Laverda, Francesca Vanadia, Pasquale Striano, Amedeo Bianchi, Lucio Giordano, Nicola Vanni, Gemma Incorpora, Francesca Beccaria, Massimo Mastrangelo, Mauro Budetta, Francesca Darra, Guya Occhi, Roberto Gaggero, Lorella Caffi, Lucia Fusco, Bernardo Dalla Bernardina, Carlo Minetti, Roberta Paravidino, Renzo Guerrini, Luigina Spaccini, Pierangelo Veggiotti, Elena Gennaro, Domenico A. Coviello, Maurizio Taglialatela, Federico Zara, Giuseppe Capovilla
المساهمون: Zara, F, Specchio, N, Striano, P, Robbiano, A, Gennaro, E, Paravidino, R, Vanni, N, Beccaria, F, Capovilla, G, Bianchi, A, Caffi, L, Cardilli, V, Darra, F, Bernardina, Bd, Fusco, L, Gaggero, R, Giordano, L, Guerrini, R, Incorpora, G, Mastrangelo, M, Spaccini, L, Laverda, Am, Vecchi, M, Vanadia, F, Veggiotti, P, Viri, M, Occhi, G, Budetta, M, Taglialatela, Maurizio, Coviello, Da, Vigevano, F, Minetti, C.
مصطلحات موضوعية: Adult, Male, Adolescent, Nerve Tissue Proteins, Biology, medicine.disease_cause, Bioinformatics, KCNQ3 Potassium Channel, Cohort Studies, Epilepsy, Young Adult, Predictive Value of Tests, medicine, Humans, KCNQ2 Potassium Channel, Benign familial neonatal seizures, Genetic Testing, Benign epilepsy, Age of Onset, Child, Genetic testing, Aged, Genetics, Aged, 80 and over, KCNQ2, Mutation, KCNQ3, NAV1.2 Voltage-Gated Sodium Channel, medicine.diagnostic_test, Genetic heterogeneity, Infant, Membrane Proteins, Paroxysmal dyskinesia, Middle Aged, medicine.disease, Epilepsy, Benign Neonatal, Channelopathies, PRRT2, Neurology, Child, Preschool, Multigene Family, Female, Neurology (clinical), Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76fc7656bdd4a939a603dfd806ac71dTest
http://hdl.handle.net/11562/625555Test -
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المؤلفون: Francesco Pisani, U. Runge, C.A. Defanti, Raffaele Manni, Antonio Gambardella, L. Moltrasio, Luigi Maria Specchio, S. Giubergia, M. Nikanorowa, N. Zanotta, E. Steuernagel, Peter Wolf, Giancarla Oteri, E. Ferreira, Gaetano Zaccara, S. Giovanni Rotondo, A.E.H. Sonnen, J. Griet, C. van Heijden, A. David, G. Castelnovo, R. Murelli, S. A. Gromov, L. Antonini, A. Mascarini, Barbara Frigeni, Giuliano Avanzini, T. Talvik, L. Mapelli, P. Zagnoni, F. Arienti, R. Thorbecke, E. Fiordelli, Elena Belousova, V. Mikhailov, Graziella Bogliun, Clara Tonini, Carlo Andrea Galimberti, Ettore Beghi, Nicola Specchio, Cesare Maria Cornaggia, M.C.T.F.M. de Krom, M.W.C. van den Broek, Mariska van den Broek, L. V. Lipatova, S.W. Brown, T. Levart, Umberto Aguglia, J.M. Lopes-Lima, H. Coyle, E. Boati, W. A. Hauser, N. Zupancic, Michele Zarrelli, A. Beilmann, Nr Alderley Edge, Messina C.E. Cavestro, P. Di Viesti, Concetta Russo, Mirco Cosottini, F. Apollo, E. Breviario, I.M. Ravnik, M.P. Pasolini, J.N. Loeber, Massimiliano Beghi, E. Biagi, P. Beleza, A. Tartara, P. Pinto
المساهمون: Van den Broek, M, Beghi, E, Cornaggia, C
المصدر: Epilepsia. 45(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Epilepsy, Illnesses, Morbidity, Neurology, Neurology (clinical), Adolescent, Population, Cohort Studies, medicine, Confidence Intervals, Humans, Prospective Studies, education, Child, Proportional Hazards Models, education.field_of_study, Chi-Square Distribution, business.industry, medicine.disease, Confidence interval, Europe, Relative risk, Morbidity, epilepsy, Child, Preschool, Cohort, Multivariate Analysis, Female, Risk assessment, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c21dd60b9e81295e51df9212b460f5Test
https://pubmed.ncbi.nlm.nih.gov/14692910Test