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1
المؤلفون: Valentina Di Liberto, Ali Rezaei, Heidrun Potschka, Nina Miljanovic, R. Maarten van Dijk, Stefanie M. Hauck
المساهمون: Miljanovic, Nina, Hauck, Stefanie M., van Dijk, R. Maarten, Di Liberto, Valentina, Rezaei, Ali, Potschka, Heidrun
المصدر: Neurobiol. Dis. 157:105423 (2021)
Neurobiology of Disease, Vol 157, Iss, Pp 105423-(2021)مصطلحات موضوعية: Male, Proteomics, 0301 basic medicine, Proteome, Hippocampus, Epilepsies, Myoclonic, Haploinsufficiency, Scn1a, Synaptic Transmission, Elevated Plus Maze Test, Epilepsy, Mice, 0302 clinical medicine, Tandem Mass Spectrometry, 11-beta-Hydroxysteroid Dehydrogenase Type 1, Genetic epilepsy, Carbon-Nitrogen Ligases, Gene Knock-In Techniques, Gliosis, Neuronal Plasticity, Behavior, Animal, Epileptic encephalopathy, Immunohistochemistry, Astrogliosis, Neurology, Disease Progression, Female, Signal Transduction, RC321-571, Dopamine and cAMP-Regulated Phosphoprotein 32, Neovascularization, Physiologic, Neurosciences. Biological psychiatry. Neuropsychiatry, Biology, Nitric Oxide, 03 medical and health sciences, Dravet syndrome, medicine, Animals, Hyperthermia, Social Behavior, ras-GRF1, Proteomic Profiling, medicine.disease, Vascular Endothelial Growth Factor Receptor-2, NAV1.1 Voltage-Gated Sodium Channel, Disease Models, Animal, 030104 developmental biology, Rotarod Performance Test, Synaptic plasticity, Epileptic Encephalopathy, Genetic Epilepsy, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Open Field Test, Neuroscience, 030217 neurology & neurosurgery, Chromatography, Liquid
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a83b87483ab00ea1c173931eabe59222
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62322 -
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المؤلفون: Jing-Qiong Kang
المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 7133, p 7133 (2021)مصطلحات موضوعية: 0301 basic medicine, amyloid β (Aβ), Alzheimer’s disease (AD), endoplasmic reticulum (ER) stress, Disease, Review, Gene mutation, GABA transporter 1, electroencephlography (EEG), Amyloid beta-Protein Precursor, Mice, 0302 clinical medicine, Biology (General), Spectroscopy, gamma-Aminobutyric Acid, biology, excitatory/inhibitory(E/I) imbalance, GABAA receptor, General Medicine, Pathophysiology, Computer Science Applications, Chemistry, genetic epilepsy (GE), protein trafficking, medicine.symptom, Signal Transduction, QH301-705.5, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Alzheimer Disease, Seizures, medicine, Animals, Humans, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Cognitive deficit, Amyloid beta-Peptides, Epilepsy, gamma-aminobutyric acid (GABA), Mechanism (biology), business.industry, Organic Chemistry, Receptors, GABA-A, GABAergic signaling, 030104 developmental biology, Synapses, Unfolded protein response, biology.protein, business, Neuroscience, 030217 neurology & neurosurgery
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3
المصدر: Epilepsia. 60:783-791
مصطلحات موضوعية: Male, 0301 basic medicine, Traumatic brain injury, Electroencephalography, Genetic epilepsy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, Genetic model, medicine, Animals, Computer Simulation, Rats, Wistar, Artifact (error), medicine.diagnostic_test, business.industry, medicine.disease, Rats, Pre-clinical development, Disease Models, Animal, 030104 developmental biology, Neurology, Disease modification, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Mehdi Mobli, Gyorgy Panyi, Volker Herzig, Christopher A. Reid, Laura H. Jacobson, Robert J. Richardson, Agota Csoti, Chun Yuen Chow, Glenn F. King, Kay L. Richards, Carol J. Milligan, Morten Grunnet, Steven Petrou, Eivind A. B. Undheim, Nikola Jancovski
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurotransmission, Inhibitory postsynaptic potential, Epileptogenesis, Sudden death, 03 medical and health sciences, 0302 clinical medicine, Dravet syndrome, Internal medicine, medicine, seizures, Multidisciplinary, business.industry, spider venom, Sodium channel, targeted drug therapy, Biological Sciences, medicine.disease, 030104 developmental biology, Endocrinology, PNAS Plus, NAV1, genetic epilepsy, Haploinsufficiency, business, 030217 neurology & neurosurgery, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183a53b76d0197e4854a3d52dc167984
http://europepmc.org/articles/PMC6112713 -
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المؤلفون: Courtney J. Wusthoff, Derek B. Boothroyd, Amanda G. Sandoval Karamian, Kristen W. Yeom, Juliet K. Knowles
المصدر: Epilepsia. 61
مصطلحات موضوعية: Male, 0301 basic medicine, Neonatal epilepsy, Pathology, medicine.medical_specialty, Genu of the corpus callosum, Gestational Age, Neuroimaging, Corpus Callosum, Genetic epilepsy, White matter, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Premovement neuronal activity, Pathological, Retrospective Studies, business.industry, Infant, Newborn, Postmenstrual Age, Brain, Gestational age, Magnetic Resonance Imaging, White Matter, Epilepsy, Benign Neonatal, 030104 developmental biology, medicine.anatomical_structure, Neurology, Case-Control Studies, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
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المؤلفون: Chung Lee, Ji-won Lee, Jeehun Lee, Chang-Seok Ki
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Male, 0301 basic medicine, next‐generation sequencing, 030105 genetics & heredity, Bioinformatics, Epilepsy, STXBP1, Family history, Genetics (clinical), NAV1.2 Voltage-Gated Sodium Channel, medicine.diagnostic_test, GTPase-Activating Proteins, High-Throughput Nucleotide Sequencing, Cadherins, DEPDC5, targeted epilepsy gene panel, Child, Preschool, Original Article, Female, genetic epilepsy, lcsh:QH426-470, Nerve Tissue Proteins, 03 medical and health sciences, Munc18 Proteins, Dravet syndrome, Genetics, medicine, Humans, KCNQ2 Potassium Channel, Genetic Testing, early‐onset epilepsy, Molecular Biology, Genetic testing, Homeodomain Proteins, Benign familial infantile epilepsy, business.industry, Infant, Newborn, Infant, Membrane Proteins, Original Articles, Sequence Analysis, DNA, medicine.disease, Protocadherins, NAV1.1 Voltage-Gated Sodium Channel, lcsh:Genetics, 030104 developmental biology, Genetic Loci, NAV1.6 Voltage-Gated Sodium Channel, diagnostic yield, business, PRRT2, Transcription Factors
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المؤلفون: Gerard van Oijen, Gilles van Luijtelaar
المصدر: Frontiers in Pharmacology, 11
Frontiers in Pharmacology, Vol 11 (2020)
Frontiers in Pharmacologyمصطلحات موضوعية: 0301 basic medicine, Drug, media_common.quotation_subject, Rat model, antiepiletic drugs, Review, Electroencephalography, Epileptogenesis, EEG-behavioral relationship, Genetic epilepsy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, Medicine, spike-wave discharges (SWDs), Pharmacology (medical), genetic absence models, media_common, Pharmacology, medicine.diagnostic_test, business.industry, Action, intention, and motor control, lcsh:RM1-950, medicine.disease, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, 030220 oncology & carcinogenesis, WAG/Rij’s rats, business, Neuroscience
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d719e5f392d95535bc69b0c692eb5a5
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/218080 -
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المؤلفون: Xuefeng Wang, Xin Tian, Ruijiao Zhou, Guohui Jiang
المصدر: Epilepsia Open
مصطلحات موضوعية: 0301 basic medicine, Cellular differentiation, Cell, Biology, Gene mutation, medicine.disease, Synapse, 03 medical and health sciences, Epilepsy, Induced pluripotent stem cells, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Neurology, Ion channels, Genetic epilepsy, medicine, Neurology (clinical), Signal transduction, Induced pluripotent stem cell, Critical Review and Invited Commentary, Neuroscience, 030217 neurology & neurosurgery, Astrocyte
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المؤلفون: Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid, Julia Oyrer, Snezana Maljevic, Steven Petrou
المصدر: Pharmacological Reviews. 70:142-173
مصطلحات موضوعية: 0301 basic medicine, Computational biology, Disease, Biology, Ion Channels, Genetic epilepsy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, medicine, Animals, Humans, Molecular Targeted Therapy, Neurologic disease, Review Articles, Gene, Ion channel, Pharmacology, Disease mechanisms, medicine.disease, 030104 developmental biology, Molecular Medicine, Anticonvulsants, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::706717b77afa2c14446e26545049699a
https://doi.org/10.1124/pr.117.014456 -
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المؤلفون: Samuel F. Berkovic, Andrew Bleasel, Hadassa Goldberg-Stern, Bronwyn E. Grinton, Sara Kivity, Leanne M. Dibbens, Elizabeth K. Ruzzo, John A. Damiano, Lata Vadlamudi, Zaid Afawi, Georgie C. Glubb, Jodie P. Malone, Rosemary Burgess, Padraic Grattan-Smith, Yue-Hua Zhang, Danya F. Vears, Katherine L. Helbig, Amos D. Korczyn, Ingrid E. Scheffer, Susannah T. Bellows, Michael S. Hildebrand
المصدر: Neurology. 89:1210-1219
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Seizures, Febrile, Genetic epilepsy, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, medicine, Humans, Age of Onset, Focal Epilepsies, Generalized epilepsy, Child, business.industry, Infant, Genetic data, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Child, Preschool, Immunology, Epilepsy, Generalized, Female, Epilepsies, Partial, Neurology (clinical), Age of onset, business, Generalized epilepsy with febrile seizures plus, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18390db2eb361bf30fba2f9cd97e9d43
https://doi.org/10.1212/wnl.0000000000004384
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