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المؤلفون: Nicola Specchio, Domenica Battaglia, Giovanni Chillemi, Roberta Onesimo, Maria Luigia Gambardella, Francesca Clementina Radio, Marina Trivisano, Tommaso Verdolotti, Marco Tartaglia, Michela Quintiliani, Chiara Leoni, Diego Martinelli, Stefania Veltri, Ilaria Contaldo, Giuseppe Zampino, Chiara Veredice, C. Dravet
المصدر: Genes, Vol 12, Iss 1316, p 1316 (2021)
Genes
Volume 12
Issue 9مصطلحات موضوعية: Oncology, medicine.medical_specialty, Neurological examination, Status epilepticus, QH426-470, Cardiofaciocutaneous syndrome, Article, BRAF, genotype–phenotype correlations, Epilepsy, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neuroimaging, Internal medicine, Genotype, medicine, Genetics, cardiofaciocutaneous syndrome, Genetics (clinical), status epilepticus, medicine.diagnostic_test, business.industry, medicine.disease, Natural history, Developmental disorder, Phenotype, hyperekplexia, epilepsy, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0118676fcd33fdb969bfc4f93a354eacTest
https://www.mdpi.com/2073-4425/12/9/1316Test -
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المؤلفون: C. Dravet
المصدر: Brain Sciences, Vol 11, Iss 792, p 792 (2021)
Brain Sciencesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, General Neuroscience, Comment, Acute encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, Status epilepticus, medicine.disease, n/a, Dravet syndrome, medicine, In patient, medicine.symptom, business, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84a70cbddb9b36ee95c12a4abee55aa6Test
https://pubmed.ncbi.nlm.nih.gov/34208473Test -
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المؤلفون: Valentina Sibilia, Eugenio Mercuri, Francesca Darra, Renzo Guerrini, Davide Mei, Carla Marini, C. Dravet, Nicola Specchio, Tiziana Granata, Daniela Chieffo, Annarita Ferrari, Francesca Offredi, Francesco Guzzetta, Federico Vigevano, Domenica Battaglia, Maria Giuseppina Baglietto, Francesca Ragona, Simona Cappelletti, Elena Fontana, G. Prato, Mara Patrini, Simona Lucibello, Bernardo Dalla Bernardina
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Longitudinal study, education.educational_degree, Neuropsychological longitudinal study, Neurodevelopmental trajectory, Epilepsies, Myoclonic, Disease, Epilepsies, Habilitation, Developmental decline, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Developmental Neuroscience, Dravet syndrome, SCN1A mutation, medicine, Humans, Longitudinal Studies, Prospective Studies, education, Child, Preschool, business.industry, Neuropsychology, Infant, Newborn, Infant, General Medicine, medicine.disease, Newborn, Neurodevelopmental Disorders, Initial phase, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Visuomotor defects, Female, Neurology (clinical), business, Myoclonic, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655fa48ea95d2da4b40390e31a7c2780Test
https://hdl.handle.net/10807/197182Test -
4مؤتمر
المؤلفون: E. Ferlazzo, m. Nikaronova, M. Bureau, C. Dravet, D. Viallat, M. kOLMEL, P. Genton, ITALIANO, DOMENICO, CALARESE, tiziana, BRAMANTI, Placido, SESSA, Edoardo
المساهمون: E., Ferlazzo, M., Nikaronova, Italiano, Domenico, M., Bureau, Calarese, Tiziana, C., Dravet, Bramanti, Placido, D., Viallat, Sessa, Edoardo, M., Kolmel, P., Genton
العلاقة: 40 congress of the italian Neurological society; http://hdl.handle.net/11570/1896834Test
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المؤلفون: Antonella Spinelli, C. Dravet, Domenica Battaglia, Gaetano Antonio Lanza, A. Saracino, Filippo Crea, Alessia De Nisco, Angelica Bibiana Delogu, Costantino Romagnoli
المصدر: Epilepsia. 52:55-58
مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.disease, Sudden death, QT interval, Epilepsy, Endocrinology, Neurology, Dravet syndrome, Internal medicine, Heart rate, medicine, Cardiology, Heart rate variability, Neurology (clinical), business, Electrocardiography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4506004a0eb5fe78f7c1abcc6c8927f3Test
https://doi.org/10.1111/j.1528-1167.2011.03003.xTest -
6
المؤلفون: Pinsard N, Henri Gastaut, H. Régis, Carlo Alberto Tassinari, Saint-Jean M, R. Soulayrol, R. Bernard, C. Dravet, J. Roger
المصدر: Epilepsia. 7:139-179
مصطلحات موضوعية: Epilepsy absence, Brain Diseases, Adolescent, Epileptic encephalopathy, Philosophy, Electroencephalography, medicine.disease, Epilepsy, Absence, Neurology, Child, Preschool, Intellectual Disability, medicine, Humans, Neurology (clinical), Child, Humanities, Lennox–Gastaut syndrome, PETIT MAL VARIANT
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134964c88239321672acc60ea6fd1381Test
https://doi.org/10.1111/j.1528-1167.1966.tb06263.xTest -
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المؤلفون: Gastaut H, H. Régis, C. Dravet, Saint-Jean M, J. L. Gastaut, R. Bernard, Roger J, Nicole Pinsard
المصدر: Developmental Medicine & Child Neurology. 20:21-27
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Adolescent, Brain Neoplasms, business.industry, Brain, Calcinosis, Infant, West's syndrome, medicine.disease, Basal Ganglia, Tuberous sclerosis, Developmental Neuroscience, Child, Preschool, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Agenesis of Corpus Callosum, Atrophy, Child, Tomography, X-Ray Computed, business, Agenesis of the corpus callosum, Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb336d2b34d4b59799ca6aed03e43d2Test
https://doi.org/10.1111/j.1469-8749.1978.tb15178.xTest -
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المؤلفون: Serena Grossi, Raffaella Mazzotti, Mirella Filocamo, C. Dravet, Renzo Guerrini, Marina Stroppiano
المصدر: Epilepsia. 45:1154-1157
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Genotype, DNA Mutational Analysis, Genetic Counseling, Progressive myoclonus epilepsy, Compound heterozygosity, Epilepsy, Reflex, Diagnosis, Differential, Genetic Heterogeneity, Epilepsy, Degenerative disease, Seizures, Evoked Potentials, Somatosensory, medicine, Humans, Child, Gaucher Disease, business.industry, Genetic heterogeneity, Exons, Myoclonic Epilepsies, Progressive, medicine.disease, nervous system diseases, Phenotype, Neurology, Mutation, Evoked Potentials, Visual, Glucosylceramidase, Neurology (clinical), Differential diagnosis, medicine.symptom, business, Glucocerebrosidase, Myoclonus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38dff6075345bb1850d45fdff2aec484Test
https://doi.org/10.1111/j.0013-9580.2004.15904.xTest -
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المؤلفون: C. Dravet, P. Gelisse, P. Genton, Pierre Thomas
المصدر: Neurology. 55:1106-1109
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Myoclonic Jerk, Idiopathic generalized epilepsy, Epilepsy, Humans, Medicine, Child, Retrospective Studies, business.industry, Myoclonic Epilepsy, Juvenile, Carbamazepine, medicine.disease, Anticonvulsant, Phenytoin, Anesthesia, Myoclonic epilepsy, Female, Neurology (clinical), medicine.symptom, Juvenile myoclonic epilepsy, business, Myoclonus, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908cab04af291f133149c3d08097fbb2Test
https://doi.org/10.1212/wnl.55.8.1106Test -
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المؤلفون: Pierre Thomas, C. Dravet, Ch. Raybaud, Ph. Gelisse, P. Genton
المصدر: Acta Neurologica Scandinavica. 102:188-191
مصطلحات موضوعية: Cerebral atrophy, Pediatrics, medicine.medical_specialty, Pathology, business.industry, General Medicine, Neurological disorder, medicine.disease, Epilepsy, Neurology, Neuroimaging, medicine, Myoclonic epilepsy, Neurology (clinical), medicine.symptom, Juvenile myoclonic epilepsy, business, Myoclonus, Neuroradiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::41ec423d85fbad000af4c5b28c587e24Test
https://doi.org/10.1034/j.1600-0404.2000.102003188.xTest