نتائج البحث - "Nicola Specchio"

1

Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow‐up

المؤلفون: Nicola Pietrafusa, Marina Trivisano, Nicola Specchio, Chiara Pepi, Lucia Fusco, Giusy Carfì Pavia, Costanza Calabrese, Simona Cappelletti, Alessandro Ferretti, Paola De Liso, Federico Vigevano, Luca De Palma, Ilaria Tondo, Antonella Benvenga, Marcello Bellusci

المصدر: Epilepsia. 60:2486-2498

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::250fae6a927d13faf235ddfcdb4b40dcTest
https://doi.org/10.1111/epi.16385Test

2

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

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

3

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

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

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

4

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

المؤلفون: Nicola Specchio, Luca De Palma, Marcello Bellusci, Federico Vigevano, Nicola Pietrafusa, Marina Trivisano

المصدر: Epilepsia. 58:1380-1388

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Electroencephalography, Severity of Illness Index, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Image Processing, Computer-Assisted, medicine, Humans, Photosensitivity Disorders, Intermittent photic stimulation, Child, Retrospective Studies, Tripeptidyl-Peptidase 1, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, 030104 developmental biology, ROC Curve, Neurology, Child, Preschool, Female, Neuronal ceroid lipofuscinosis, Cerebellar atrophy, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31fae2454eb49c99b9d5e18eb72f40edTest
https://doi.org/10.1111/epi.13820Test

5

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

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

6

Defining the phenotypic spectrum of SLC6A1 mutations

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