المؤلفون: Krey, Ilona, Platzer, Konrad, Esterhuizen, Alina, Berkovic, Samuel, Helbig, Ingo, Hildebrand, Michael, Lerche, Holger, Møller, Rikke, Poduri, Annapurna, Sadleir, Lynette, Sisodiya, Sanjay, Weckhuysen, Sarah, Wilmshurst, Jo, Weber, Yvonne, Lemke, Johannes, Cross, J, Lowenstein, Daniel, Mefford, Heathea, Perucca, Piero, Tan, Nigel, Caglayan, Hande, Helbig, Katherine, Singh, Gagandeep

المصدر: Epileptic Disorders: international epilepsy journal with videotape. 24(5)

مصطلحات موضوعية: genetic epilepsy, next-generation sequencing, genetic counseling genetic testing, variant of uncertain significance, precision medicine, Diagnostic Techniques and Procedures, Epilepsy, Genetic Testing, Humans

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/25f6t716

المؤلفون: Naglaa Fathy Barseem, Essam Shawky A. E. H. Khattab, Sameh Abdulla Abd Elnaby, Dalia Saber Saad

المصدر: CNS & Neurological Disorders - Drug Targets. 21:450-457

مصطلحات موضوعية: medicine.medical_specialty, Neurology, Seizures, Febrile, Genetic epilepsy, Polymorphism (computer science), Febrile seizure, Internal medicine, Genotype, Humans, Medicine, Allele, Child, Gene, Pharmacology, Epilepsy, NAV1.2 Voltage-Gated Sodium Channel, Polymorphism, Genetic, business.industry, General Neuroscience, Infant, medicine.disease, Cross-Sectional Studies, Anticonvulsants, Egypt, Restriction fragment length polymorphism, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f7d5f64392c2ec75f15b603fd242e8
https://doi.org/10.2174/1871527320666211004123731

المؤلفون: Marina Trivisano, Angela De Dominicis, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Alessandra Terracciano, Costanza Calabrese, Federico Vigevano, Giuseppe Novelli, Antonio Novelli, Nicola Specchio

مصطلحات موضوعية: Male, Developmental and epileptic encephalopathy, Epilepsy, Mediator Complex, Infantile spasms, Autism Spectrum Disorder, General Medicine, West syndrome, MED13 gene, Phenotype, Neurology, Neurodevelopmental disorder, Settore MED/03, Seizures, Intellectual Disability, Mutation, Genetic epilepsy, Microcephaly, Humans, Neurology (clinical), Spasms, Infantile

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a386f9c55a05bfbdff2ede3c0b0a17c
https://hdl.handle.net/2108/321972

المؤلفون: Sheila Garcia-Rosa, Bianca de Freitas Brenha, Bruno Henrique Silva Araujo, Vinicius Felipe da Rocha, Ernesto Goulart

المصدر: Current Neuropharmacology

مصطلحات موضوعية: Candidate gene, Population, Disease, single-cell sequencing, Bioinformatics, Article, Epilepsy, Genetic epilepsy, Humans, Medicine, Pharmacology (medical), antiepileptic drugs, Precision Medicine, education, Genetic association, pharmacogenomics, Pharmacology, education.field_of_study, drug resistance, brain organoids, business.industry, General Medicine, medicine.disease, drug development, Psychiatry and Mental health, Neurology, Drug development, Pharmacogenetics, Pharmacogenomics, Mutation, Anticonvulsants, Neurology (clinical), Personalized medicine, business, transcriptome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee8a41d8a75ee74d242de481fcd02527
https://doi.org/10.2174/1570159x18666200915151909

المؤلفون: Annamaria Vezzani, Kevin J. Staley, Aristea S. Galanopoulou, Terence J. O'Brien, Harald Sontheimer, Brian D. Klein, H. Steve White, John A. Wolf, Wolfgang Löscher, Twyman Roy E, Karen S. Wilcox, Raimondo D'Ambrosio, Laura Lubbers, Vicky Whittemore

المصدر: Epilepsia Open
Epilepsia Open, Vol 6, Iss 2, Pp 276-296 (2021)

مصطلحات موضوعية: medicine.medical_specialty, translation, Disease, Comorbidity, Epilepsy types, Translational Research, Biomedical, Epilepsy, acquired epilepsy, medicine, Humans, National Institute of Neurological Disorders and Stroke (U.S.), RC346-429, Special Report, Medical education, treatment, business.industry, Public health, Clinical study design, animal model, medicine.disease, United States, Clinical trial, Data sharing, Stroke, Neurology, Disease modification, Special Reports, Neurology. Diseases of the nervous system, Neurology (clinical), genetic epilepsy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf448e5675bffbaccf41799fd68c456
http://europepmc.org/articles/PMC8166793

المؤلفون: Arife Çimen Atalar, Bengi Gül Türk, Esme Ekizoglu, Duygu Kurt Gök, Betül Baykan, Aynur Özge, Semih Ayta, Füsun Ferda Erdoğan, Seher Naz Yeni, Bahar Taşdelen, Sibel K. Velioglu, Zuhal Yapıcı, İpek Midi, Serap Saygı, Ulufer Çelebi, Elif Sarıca Darol, Kadriye Ağan, Senem Ayça, Sibel Gazioğlu, Zeynep Vildan Okudan, Nermin Görkem Şirin, Nerses Bebek, Neşe Dericioğlu, İlknur Güçlü Altun, Ayşe Destina Yalçın, Reyhan Sürmeli, Oğuz Osman Erdinç, Abidin Erdal, Demet İlhan Algın, Gülnihal Kutlu, Semai Bek, Yüksel Erdal, Akçay Övünç Özön, Aylin Reyhani, Babürhan Güldiken, Barış Baklan, Bülent Oğuz Genç, Ebru Aykutlu Altındağ, Gökçen Karahan, Güray Koç, Handan Mısırlı, İbrahim Öztura, Kezban Aslan‐Kara, Merve Melodi Çakar, Nur Türkmen, Onur Bulut, Ömer Karadaş, Özlem Kesim Şahin, Sevgi Ferik, Mehmet Taylan Peköz, Pınar Topaloğlu, Sibel Üstün Özek, Ülkühan Düzgün, Vildan Yayla, Yasemin Gömceli, Zeynep Ünlüsoy Acar

المساهمون: Atalar A. C., TÜRK B. G., Ekizoglu E., Gok D. K., BAYKAL B., ÖZGE A., Ayta S., ERDOĞAN F. F., YENİ S. N., Tasdelen B., et al.

مصطلحات موضوعية: Adult, Adolescent, CHILDHOOD, UNITED-STATES, CHILDREN, idiopathic epilepsy, CLINICAL NEUROLOGY, Sağlık Bilimleri, Clinical Medicine (MED), CLASSIFICATION, MIGRALEPSY, MECHANISMS, Cohort Studies, Nöroloji, Seizures, Health Sciences, Cluster Analysis, Humans, Klinik Tıp (MED), JUVENILE MYOCLONIC EPILEPSY, Child, KLİNİK NÖROLOJİ, Internal Medicine Sciences, Klinik Tıp, headache phenotypes, Myoclonic Epilepsy, Juvenile, Headache, Life Sciences, Electroencephalography, Dahili Tıp Bilimleri, CLINICAL MEDICINE, Tıp, PREVALENCE, MIGRAINE, Neurology, Medicine, myoclonic seizures, Epilepsy, Generalized, genetic epilepsy, Neurology (clinical), BURDEN

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a892a180123968b021327440ab719cc7
https://avesis.kayseri.edu.tr/publication/details/8ddb45db-24d3-4b0b-93b5-f84d77e58095/oai

المؤلفون: Heather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, Daniela Pohl, David A. Dyment

المصدر: Genes; Volume 13; Issue 5; Pages: 872

مصطلحات موضوعية: Epilepsy, Seizures, epilepsy panel, genetic epilepsy, epilepsy, epileptic encephalopathies, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, Genetics (clinical), Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a997544628891145011597953bb684f7

المؤلفون: Raffaele Dubbioso, Lorenzo Ricci, Antonietta Coppola, Jacopo Lanzone, Giovanni Assenza, Mario Tombini, Angelo Insola, Marilisa Boscarino, Leonilda Bilo, Vincenzo Di Lazzaro

المساهمون: Assenza, G., Lanzone, J., Dubbioso, R., Coppola, A., Boscarino, M., Ricci, L., Insola, A., Bilo, L., Tombini, M., Di Lazzaro, V.

المصدر: Clinical Neurophysiology. 131:2041-2046

مصطلحات موضوعية: Adult, Male, Thalamus, 050105 experimental psychology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuroimaging, Evoked Potentials, Somatosensory, Physiology (medical), Genetic epilepsy, medicine, Humans, 0501 psychology and cognitive sciences, Cerebral Cortex, business.industry, Myoclonic Epilepsy, Juvenile, 05 social sciences, Genetic disorder, Electroencephalography, Juvenile Myoclonic Epilepsy, medicine.disease, Sensory Systems, body regions, medicine.anatomical_structure, Somatosensory evoked potential, Neurology, Scalp, population characteristics, Female, Neurology (clinical), medicine.symptom, Juvenile myoclonic epilepsy, business, Neuroscience, Myoclonus, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febe7c49f6d6ee91354b544807476a62
https://doi.org/10.1016/j.clinph.2020.04.164

المؤلفون: Renzo Guerrini, Anna Rosati, Simona Pellacani, Beatrice De Maria, Elena Parrini, Tiziana Pisano, Edith Said, Federico Melani, Cristina Zammarchi, Serena Galosi, Lucio Giordano, Gaetano Cantalupo, Giusi M Scaturro, Vincenzo Leuzzi, Mario Mastrangelo, Simona Balestrini, Elena Fontana, Davide Mei

مصطلحات موضوعية: Disease, CHD2, chromatin-remodeling enzymes, genetic epilepsy, neurodevelopmental disorders, Epilepsy, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Attention deficit hyperactivity disorder, Generalized epilepsy, Genetics (clinical), business.industry, Electroencephalography, medicine.disease, Phenotype, DNA-Binding Proteins, Mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d853c8118fff7917129f59e24eb54f5
http://hdl.handle.net/11573/1624296

المؤلفون: Ching-Shiang Chi, Alessandro Ferretti, Lorenzo Muccioli, Hsiu-Fen Lee, Marina Trivisano, Francesca Bisulli

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Electroencephalography, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Risk Factors, Seizures, medicine, Tonic (music), Humans, In patient, pediatric epilepsy, 030212 general & internal medicine, Sudden Unexpected Death in Epilepsy, Cardiac channelopathy, Monitoring, Physiologic, medicine.diagnostic_test, sudep risk factors, business.industry, Incidence (epidemiology), Infant, medicine.disease, DEPDC5, Neurology, Etiology, Neurology (clinical), genetic epilepsy, business, sudep, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1eb6a211203e0cdb600a99faf2bb27c
https://hdl.handle.net/11573/1677851