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 Parrini, Sara Chiari, Ilaria Contaldo, Nicola Specchio, Francesca Ragona, Giuliano Avanzini, Domenica Battaglia, Annarita Ferrari, Renzo Guerrini, Federico Sicca, Tiziana Granata, Davide Mei, Cristina Petrelli, Carla Marini, Marina Trivisano, Valentina Cetica, Laura Grisotto, Daniela Pucatti, Nelia Zamponi

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Epilepsies, Myoclonic, dravet syndome, Epilepsies, Statistics, Nonparametric, Frameshift mutation, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Dravet syndrome, Positive predicative value, 80 and over, Medicine, Humans, Nonparametric, Longitudinal Studies, Family history, Age of Onset, Child, Preschool, Genetic Association Studies, Aged, Aged, 80 and over, Receiver operating characteristic, business.industry, Statistics, Infant, Electroencephalography, Odds ratio, Middle Aged, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, ROC Curve, Child, Preschool, Mutation, Female, Neurology (clinical), Age of onset, business, Myoclonic, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb03e7018cae3a43fb6596270a686721Test
https://hdl.handle.net/10807/161905Test

المؤلفون: Elena Gardella, Lieven Lagae, Thomas Schmitt-Mechelke, Gerhard Kluger, Nine V A M Knoers, Sandrine Mary, Marina Trivisano, Grazia M.S. Mancini, Cyril Mignot, Laila Selim, Katrine M Johannesen, Karen Markussen Linnet, Ulrike B. S. Hedrich, Maria J Miranda, Walid Fazeli, Miriam Döcker, Hannah Stamberger, Rikke S. Møller, Stéphane Auvin, Saskia Biskup, Maja Hempel, Laurence Perrin, Laurent Villard, Claudio Finetti, Ingo Helbig, Nicola Specchio, Eve Õiglane-Shlik, Holger Lerche, Peter De Jonghe, John F Mantovani, Daniel H. Arndt, Helle Hjalgrim, Dinesh V Jillella, Ingeborg Krägeloh-Mann, Pasquale Striano, Sarah Weckhuysen, Silvia Masnada, Marie Deprez, G. Christoph Korenke, Elena Fontana, Ute Moog, Jess G. Thoene, Kristen Park, Thomas Bast, Reinhard Brückner, Rudy Van Coster, Beverly Wical, Sandra Chantot-Bastaraud, Damien Lederer, Eva H. Brilstra, Gaetan Lesca, Markus Wolff, Joerg Klepper, Diane Doummar, Robertino Dilena, Kees P.J. Braun, Nienke E. Verbeek, Alexandra Afenjar, Mathieu Milh, Oliver Maier, Perrine Charles, Marion Gérard, Katia Hardies, Emmanuel Scalais, Joachim Pietz, Federico Zara, Marjan J. A. van Kempen, Guido Rubboli, Hiltrud Muhle, Caroline Lardennois, Günther Golla, Johannes R. Lemke, Thomas Dorn, Berten Ceulemans, Gerhard Kurlemann, Tobias Loddenkemper, Nicolas Deconinck, Lily C. Wong-Kisiel, Friedrich A. M. Baumeister, Niklas Schwarz, Katherine L. Helbig, Konstanze Hörtnagel, Marina Nikanorova, Caroline Nava, Dorothée Ville

المساهمون: Clinical Genetics, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Epilepsie et ischémie cérébrale, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Unité fonctionnelle de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 'Personal Protection Against Vectors' working group (PPAV), PPAV working group, Institute of Human Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), University Medical Center [Utrecht], CeGaT GmbH, Epilepsy Center Kork, Epilepsy Center Kork = Epilepsiezentrum Kork, Pediatric Neurology and Neuromuscular Diseases Unit, Università degli studi di Genova = University of Genoa (UniGe), F. Hoffmann-La Roche [Basel], Perinatal Epidemiology Research Unit, Department of Pediatrics, Aarhus University Hospital, Human Genetics Institute, Heidelberg University, Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Department of Pediatrics, Ghent University Hospital, Department of Pediatric Neurology, University of Leuven Medical School, University Hospitals KULeuven, Medical Genetics Laboratory, University of Calgary, Department of Molecular and Developmental Genetics (VIB11), Flanders institute of biotechnology, Antwerp University Hospital [Edegem] (UZA), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital, Children’s Hospital of Philadelphia (CHOP ), Epilepsy Center for Children and Adolescents, Ambry Genetics. intramural funds of the University of Kiel, grant from the German Research Foundation (HE5415/3-1) within the EuroEPINOMICS framework of the European Science Foundation, the German Research Foundation (DFG,HE5415/5-1, HE 5415/6-1), German Ministry for Education and Research (01DH12033, MAR 10/012), grant by the German chapter of the International League Against Epilepsy (DGfE). the EU FP7 project EpiPGX (279062), the EuroEPINOMICS framework of the European Science Foundation (DFG grant Le1030/11-2), by the German Ministry for Education and Research (BMBF) rare disease network IonNeurONet (01GM1105A), the German chapter of the International League Against Epilepsy (DGfE) the foundation 'no epilep'. ESF/Euro-Epinomics (GA136.11.N and FWO/ESF-ECRP). the Fund for Scientific Research Flanders (1125416N), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universita degli studi di Genova, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Villard, Laurent

المصدر: Brain, 140(5), 1316. Oxford University Press
Brain, 140, 1316-1336. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Brain
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gérard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N V, Verbeek, N E, van Kempen, M J A, Braun, K P J, Mancini, G, Biskup, S, Hörtnagel, K, Döcker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brückner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Õiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, De Jonghe, P, Weckhuysen, S, Lemke, J R, Krägeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Møller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, no. 5, pp. 1316–1336 . https://doi.org/10.1093/brain/awx054Test
Brain, 140(5), 1316-1336. Oxford University Press
Wolff, M, Johannesen, K M, Hedrich, U B S, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gerard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, M J, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, K P, Mancini, G, Biskup, S, Hoertnagel, K, Doecker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, F M, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Brueckner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Oiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, de Jonghe, P, Weckhuysen, S, Lemke, J R, Kraegeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Moller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, pp. 1316-1336 . https://doi.org/10.1093/brain/awx054Test

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Ohtahara syndrome, INTELLECTUAL DISABILITY, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Denmark, Pharmacology, Neurodevelopmental Disorders/genetics, Epilepsy, 0302 clinical medicine, Sodium channel blocker, Age of Onset, Child, NAV1.2 Voltage-Gated Sodium Channel, NAV1.2 Voltage-Gated Sodium Channel/genetics, SCN2A MUTATION, West Syndrome, 3. Good health, Phenotype, Child, Preschool, Female, medicine.symptom, Sodium Channel Blockers, Adult, medicine.medical_specialty, Adolescent, MIGRATING FOCAL SEIZURES, ONSET EPISODIC ATAXIA, Late onset, Status epilepticus, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, epilepsy, epilepsy genetics, SCN2A, sodium channel blockers, treatment response, 03 medical and health sciences, Young Adult, MISSENSE MUTATION, Journal Article, medicine, Humans, Preschool, NEONATAL-INFANTILE SEIZURES, EPILEPTIC ENCEPHALOPATHY, Genetic heterogeneity, AUTISM SPECTRUM DISORDER, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Infant, SODIUM-CHANNEL, medicine.disease, Denmark/epidemiology, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Mutation, Sodium Channel Blockers/therapeutic use, Human medicine, Neurology (clinical), Age of onset, Epilepsy/drug therapy, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47496a709295274c6c412d47a65d5e6dTest
https://dspace.library.uu.nl/handle/1874/361527Test

المؤلفون: Valentina, Cetica, Sara, Chiari, Davide, Mei, Elena, Parrini, Laura, Grisotto, Carla, Marini, Daniela, Pucatti, Annarita, Ferrari, Federico, Sicca, Nicola, Specchio, Marina, Trivisano, Domenica, Battaglia, Ilaria, Contaldo, Nelia, Zamponi, Cristina, Petrelli, Tiziana, Granata, Francesca, Ragona, Giuliano, Avanzini, Renzo, Guerrini

المصدر: Neurology. 88(11)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Adolescent, Infant, Electroencephalography, Epilepsies, Myoclonic, Middle Aged, Statistics, Nonparametric, Article, NAV1.1 Voltage-Gated Sodium Channel, Young Adult, ROC Curve, Child, Preschool, Mutation, Humans, Female, Longitudinal Studies, Age of Onset, Child, Genetic Association Studies, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c0bbaf9dce76c9cc47e5f6631c0a1002Test
https://pubmed.ncbi.nlm.nih.gov/28202706Test

المؤلفون: Nicola Specchio, Evelyn Douglas, Enzo Ranieri, Lynette G. Sadleir, Duyen H. Pham, Eric Haan, Jozef Gecz, Kim Hynes, Ingrid E. Scheffer, Chloe Shard, C Tan, Grant Buchanan, Raman Kumar, Cheryl Shoubridge, Samuel F. Berkovic, Renzo Guerrini, Christel Depienne, Damian Leach, Mark A. Corbett, Rikke S. Møller, Carla Marini, Jacinta M McMahon, Lam Son Nguyen, Paul Q. Thomas

المساهمون: Tan, Chuan, Shard, Chloe, Ranieri, Enzo, Hynes, Kim, Gecz, Jozef

المصدر: Tan, C, Shard, C, Ranieri, E, Hynes, K, Pham, D H, Leach, D, Buchanan, G, Corbett, M, Shoubridge, C, Kumar, R, Douglas, E, Nguyen, L S, Mcmahon, J, Sadleir, L, Specchio, N, Marini, C, Guerrini, R, Moller, R S, Depienne, C, Haan, E, Thomas, P Q, Berkovic, S F, Scheffer, I E & Gecz, J 2015, ' Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency ', Human Molecular Genetics, vol. 24, no. 18, pp. 5250-5259 . https://doi.org/10.1093/hmg/ddv245Test

مصطلحات موضوعية: Ganaxolone, Pregnanolone, Epilepsy, chemistry.chemical_compound, PCDH19-FE, Cluster Analysis, Gene Regulatory Networks, Age of Onset, Child, Genetics (clinical), allopregnanolone, General Medicine, Middle Aged, Cadherins, Phenotype, female, Child, Preschool, Hydroxyprostaglandin Dehydrogenases, Female, Signal Transduction, medicine.drug, Adult, medicine.medical_specialty, 3-Hydroxysteroid Dehydrogenases, Neuroactive steroid, Adolescent, Protocadherin, protocadherin 19, Biology, Young Adult, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Sexual differentiation, Gene Expression Profiling, Allopregnanolone, Aldo-Keto Reductase Family 1 Member C3, Infant, Newborn, Infant, Reproducibility of Results, Fibroblasts, medicine.disease, Protocadherins, Endocrinology, Gene Expression Regulation, chemistry, allopregnanolone deficiency, Mutation, Epilepsy syndromes, epilepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e908647186fc5238c8ba3035d80c00Test
https://portal.findresearcher.sdu.dk/da/publications/d137b64e-cd1a-445a-afb9-c07195691c1cTest

المؤلفون: Federico Vigevano, Alessandra Terracciano, Nicola Specchio, Romina Moavero, Marina Trivisano, Raffaella Cusmai, Simona Cappelletti, Simonetta Gentile, Giuseppe Pontrelli

المصدر: Epilepsybehavior : EB. 42

مصطلحات موضوعية: Persistence (psychology), Adult, medicine.medical_specialty, Adolescent, Child Behavior Disorders, Behavioral Neuroscience, Epilepsy, Cognition, Cognitive and behavioral profile, PCDH19 gene, Age of Onset, Aggression, Cadherins, Child, Child, Preschool, Depression, Female, Follow-Up Studies, Humans, Intellectual Disability, Mental Disorders, Mutation, Neurologic Examination, Psychotic Disorders, Intellectual disability, Cognitive development, medicine, Seizure semiology, Psychiatry, Preschool, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, Protocadherins, Neurology, Cohort, Neurology (clinical), Depressed mood, Psychology, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e4f98d34c3845eedf635dda3f5f5c0Test
https://pubmed.ncbi.nlm.nih.gov/25499160Test

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

المؤلفون: Marina Trivisano, Antonio Carotenuto, Simona Cappelletti, Federico Vigevano, Natia Japaridze, Lucia Fusco, Luigi Maria Specchio, Nicola Specchio, Martina Balestri, Pasquale Striano

المساهمون: Specchio, Nicola, Balestri, Martina, Trivisano, Marina, Japaridze, Natia, Striano, Pasquale, Carotenuto, Antonio, Cappelletti, Simona, Specchio, Luigi M, Fusco, Lucia, Vigevano, Federico

المصدر: Journal of child neurology. 27(4)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Time Factors, Adolescent, Epilepsies, Myoclonic, Nerve Tissue Proteins, Disease, Electroencephalography, Scn1a mutation, Sodium Channels, Epilepsy, Dravet syndrome, medicine, Humans, Ictal, Longitudinal Studies, Age of Onset, Child, Retrospective Studies, medicine.diagnostic_test, business.industry, Five year follow up, medicine.disease, Brain Waves, NAV1.1 Voltage-Gated Sodium Channel, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0774486f8ce853f933b1250c634288ecTest
https://pubmed.ncbi.nlm.nih.gov/22019839Test

المؤلفون: Francesca, Ragona, Tiziana, Granata, Bernardo, Dalla Bernardina, Francesca, Offredi, Francesca, Darra, Domenica, Battaglia, Monica, Morbi, Daniela, Brazzo, Simona, Cappelletti, Daniela, Chieffo, Ilaria, De Giorgi, Elena, Fontana, Elena, Freri, Carla, Marini, Alessio, Toraldo, Nicola, Specchio, Pierangelo, Veggiotti, Federico, Vigevano, Renzo, Guerrini, Francesco, Guzzetta, Charlotte, Dravet

مصطلحات موضوعية: Male, Heterozygote, Adolescent, Genotype, MENTAL RETARDATION, dRAVET SYNDROME, COGNITION, Juvenile, Nerve Tissue Proteins, Sodium Channels, Child Development, Cognition, Status Epilepticus, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Seizures, Humans, Age of Onset, Child, Preschool, Retrospective Studies, Myoclonic Epilepsy, Juvenile, Infant, Electroencephalography, Magnetic Resonance Imaging, NAV1.1 Voltage-Gated Sodium Channel, Italy, Myoclonic Epilepsy, Child, Preschool, Mutation, Linear Models, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b9511f561b2b739f0c8131eda6215ea2Test
https://hdl.handle.net/10807/31858Test

المؤلفون: Nicola, Specchio, Marina, Trivisano, Vincenzo, Di Ciommo, Simona, Cappelletti, Giovanni, Masciarelli, Josiv, Volkov, Lucia, Fusco, Federico, Vigevano

المصدر: Epilepsia. 51(10)

مصطلحات موضوعية: Male, Adolescent, Infant, Electroencephalography, Syndrome, Neuropsychological Tests, Prognosis, Magnetic Resonance Imaging, Autonomic Nervous System Diseases, Child, Preschool, Humans, Anticonvulsants, Female, Epilepsies, Partial, Age of Onset, Child, Follow-Up Studies, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8035575199380c4012356bf02034a885Test
https://pubmed.ncbi.nlm.nih.gov/20528983Test