المؤلفون: Renzo Guerrini, Carlo Efisio Marras, Flavio Giordano, Camilla Rossi-Espagnet, Lorenzo Genitori, Carmen Barba, Massimo Cossu, Federico Vigevano, Laura Tassi, Nicola Pietrafusa, Giorgio Lo Russo, Susanna Rizzi, Veronica Pelliccia, Nicola Specchio, Alessandro De Benedictis, Luca De Palma, Francesca Gozzo, Giusy Carfi-Pavia

المصدر: Epilepsy & Behavior. 93:22-28

مصطلحات موضوعية: Adult, Male, Drug Resistant Epilepsy, Hemimegalencephaly, Pediatrics, medicine.medical_specialty, Adolescent, Hemispherectomy, Young Adult, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, Postoperative Complications, 0302 clinical medicine, Recurrence, medicine, Humans, Epilepsy surgery, 030212 general & internal medicine, Child, Encephalomalacia, Retrospective Studies, business.industry, Infant, Cortical dysplasia, medicine.disease, Treatment Outcome, Italy, Neurology, Child, Preschool, Cohort, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db469698cead6b3a8c5efa3f9d7d981Test
https://doi.org/10.1016/j.yebeh.2019.01.006Test

المؤلفون: Elena Cardenal-Muñoz, Igor Prpić, José Ángel Aibar, Isabella Brambilla, Francesca Darra, Nicola Specchio, Irena Bibic, Rima Nabbout, Anne Sophie Hallet

المصدر: Epilepsia Open
Volume 6
Issue 1
Epilepsia Open, Vol 6, Iss 1, Pp 216-224 (2021)

مصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, telemedicine, social isolation, Health Behavior, Epilepsies, Myoclonic, Patient advocacy, lcsh:RC346-429, Epilepsy, Surveys and Questionnaires, Pandemic, Short Research Article, Young adult, Social isolation, Child, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Masks, Health Services, Middle Aged, Short Research Articles, Neurology, Caregivers, Child, Preschool, Disease Progression, Female, medicine.symptom, Adult, medicine.medical_specialty, Telemedicine, Adolescent, Physical Distancing, Public Policy, behavior disorders, pandemics, Young Adult, Dravet syndrome, COVID‐19, medicine, Humans, lcsh:Neurology. Diseases of the nervous system, Problem Behavior, business.industry, SARS-CoV-2, Infant, COVID-19, medicine.disease, Clinical trial, Spain, Family medicine, Communicable Disease Control, Neurology (clinical), business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5853e33ce2711fa4c01d5d1898cd52Test
http://hdl.handle.net/11562/1038771Test

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. 748-757

مصطلحات 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

المؤلفون: Marina Trivisano, Julien Jung, Lieven Lagae, Marco Tartaglia, Nathalie Villeneuve, Berge A. Minassian, Ilaria Guella, Ruo Ming Shi, Luca De Palma, Gregory M. Cooper, Alessandro Ferretti, Michelle L. Thompson, Ingrid E. Scheffer, Eri Takeshita, Antonio Novelli, Gunnar M. Buyse, Michelle Demos, Alessandra Terracciano, Linda Huh, Federico Vigevano, Tomoko Kobayashi, Laurent Villard, Atsuo Kikuchi, Ryo Takeguchi, Gaetan Lesca, Maryline Carneiro, E. M. Bebin, Marie Laure Mathieu, Nicola Specchio, Mathieu Milh, Kazuhiro Haginoya, Aleksandra Siekierska, Nicola Pietrafusa

المساهمون: Gall, Valérie, Children's Hospital Bambino Gesù IRCCS [Rome], University of Alabama at Birmingham [ Birmingham] (UAB), University of British Columbia (UBC), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospitals Leuven [Leuven], Asahikawa Medical University, Hospices Civils de Lyon (HCL), Miyagi Children’s Hospital, Xi'an Jiaotong University (Xjtu), Tohoku University [Sendai], University Hospitals KULeuven, University of Texas Southwestern, National Center of Neurology and Psychiatry, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), University of Melbourne, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Epilepsia
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩

مصطلحات موضوعية: Male, 0301 basic medicine, [SDV]Life Sciences [q-bio], ILAE COMMISSION, [SDV.GEN] Life Sciences [q-bio]/Genetics, Bioinformatics, Germline, Epilepsy, 0302 clinical medicine, Gene duplication, Medicine, Missense mutation, Child, Brain Diseases, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Brain, Electroencephalography, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], Neurology, Child, Preschool, Female, medicine.symptom, Life Sciences & Biomedicine, POSITION PAPER, Adult, Adolescent, FHF1, Clinical Neurology, Prenatal diagnosis, Status epilepticus, Article, CLASSIFICATION, neonatal onset, Young Adult, 03 medical and health sciences, Intellectual Disability, Humans, developmental and epileptic encephalopathy, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, Science & Technology, business.industry, Infant, Drug Resistant Epilepsy, medicine.disease, Fibroblast Growth Factors, 030104 developmental biology, FGF12, epilepsy, Neurology (clinical), Neurosciences & Neurology, genetic, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4d1a11078ecaf1ba0275c15ca52819Test
https://hal-amu.archives-ouvertes.fr/hal-03149027Test

المؤلفون: Alberto Cossu, M.L. Gambardella, Nicola Pietrafusa, Bernardo Dalla Bernardina, Federico Vigevano, Francesca Ragona, Viola Doccini, Silvia Spolverato, Marina Trivisano, Nicola Specchio, Davide Mei, Anna Rosati, Tiziana Granata, Renzo Guerrini, Domenica Battaglia, Francesca Darra, Michela Quintiliani

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Zonisamide, Epilepsies, Myoclonic, 03 medical and health sciences, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Dravet syndrome, Interquartile range, Seizures, Stiripentol, Medicine, Humans, Prospective Studies, SCN1A, Child, Valproic Acid, business.industry, Seizure types, childhood epilepsy, medicine.disease, convulsive seizures, Anorexia, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Epilepsy syndromes, Anticonvulsants, Female, fenfluramine, Neurology (clinical), Levetiracetam, business, 030217 neurology & neurosurgery, Selective Serotonin Reuptake Inhibitors, medicine.drug, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317b380df04ebb4b62d03e0fa4b0bc3fTest
http://hdl.handle.net/11562/1029067Test

المؤلفون: V. Sarcona, Nicola Specchio, Pasquale Striano, Elisa Bianchi, Giovanna Randazzo, Maurizio Elia, Erika Rebessi, Giorgia Giussani, Alessandro Ferretti, Alberto Verrotti, Ettore Beghi, Paolo Bonanni

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Concordance, Neurodevelopmental disease, Dup15q, Chromosome aberration, Chromosomes, Validity, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Diagnosis, medicine, Humans, Medical history, Preschool, Child, Genetic testing, Chromosome Aberrations, Chromosomes, Human, Pair 15, Epilepsy, medicine.diagnostic_test, business.industry, Pair 15, Syndrome, General Medicine, medicine.disease, Reliability, Hypotonia, Dud15q syndrome, Neurology, Neurodevelopmental Disorders, Child, Preschool, Differential, Female, Neurology (clinical), Differential diagnosis, medicine.symptom, business, 030217 neurology & neurosurgery, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a920ff7c05d63126f53a982c69a03bTest
https://hdl.handle.net/11573/1677836Test

المؤلفون: Costanza Calabrese, Federico Vigevano, Raffaella Rainò, Tommaso Renzetti, Ilaria Pannacci, Nicola Pietrafusa, Nicola Specchio, Andrea Giuffrida

المصدر: Epilepsybehavior : EB. 105

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Medical staff, Adolescent, education, Social Stigma, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, Young Adult, 0302 clinical medicine, Seizures, Surveys and Questionnaires, medicine, Humans, Statistical analysis, 030212 general & internal medicine, Child, Students, Aged, School age child, Schools, Descriptive statistics, Social work, business.industry, Disease Management, Odds ratio, Teacher Training, Middle Aged, medicine.disease, Neurology, Italy, Family medicine, Anxiety, Educational Status, Female, Neurology (clinical), medicine.symptom, School Teachers, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce4ce6439e0733881cfc9df65d588c71Test
https://pubmed.ncbi.nlm.nih.gov/32086151Test

المؤلفون: D Maiorani, Pasquale Striano, Chiara Pepi, Raffaella Cusmai, Nicola Specchio, Dario Pruna, S Cossu, Elisabetta Cesaroni, M. Di Capua, Federico Vigevano

المصدر: Seizure. 73

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Status Epilepticus, Neuroimaging, Genetic epilepsy, medicine, Humans, Absence, NCSE, Child, Exome sequencing, Retrospective Studies, Psychomotor learning, Valproic Acid, business.industry, Electroencephalography, General Medicine, medicine.disease, Ethosuximide, Neurology, Italy, Epilepsy syndromes, Cohort, Anticonvulsants, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62b1383a17563730894bf2189065220Test
https://pubmed.ncbi.nlm.nih.gov/31776058Test

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

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 2

مصطلحات 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