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1دورية أكاديمية
المؤلفون: Anderson, Lyndsey L, Everett‐Morgan, Declan, Petkova, Stela P, Silverman, Jill L, Arnold, Jonathon C
المصدر: Epilepsia Open. 8(3)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Epilepsy, Brain Disorders, Neurodegenerative, Animals, Mice, Electroencephalography, Epilepsies, Myoclonic, Seizures, Disease Models, Animal, NAV1.1 Voltage-Gated Sodium Channel, Dravet syndrome, epilepsy, seizures, ultrasonic, vocalizations, Clinical sciences, Biological psychology
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Espino, Cyrrus M, Lewis, Cheyanne M, Ortiz, Serena, Dalal, Miloni S, Garlapalli, Snigdha, Wells, Kaylee M, O'Neil, Darik A, Wilkinson, Katherine A, Griffith, Theanne N
مصطلحات موضوعية: Biomedical and Clinical Sciences, Medical Physiology, Neurosciences, Clinical Sciences, Behavioral and Social Science, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Female, Humans, Male, Mice, Action Potentials, Mice, Knockout, Proprioception, Sensory Receptor Cells, NAV1.1 Voltage-Gated Sodium Channel, somatosensation, voltage-gated sodium channel, proprioception, motor function, Na(v)1, 1, electrophysiology, Mouse, Nav1.1, mouse, neuroscience, Biochemistry and Cell Biology, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5r96s5gcTest
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3دورية أكاديمية
المؤلفون: Haigh, Jessica L, Adhikari, Anna, Copping, Nycole A, Stradleigh, Tyler, Wade, A Ayanna, Catta-Preta, Rinaldo, Su-Feher, Linda, Zdilar, Iva, Morse, Sarah, Fenton, Timothy A, Nguyen, Anh, Quintero, Diana, Agezew, Samrawit, Sramek, Michael, Kreun, Ellie J, Carter, Jasmine, Gompers, Andrea, Lambert, Jason T, Canales, Cesar P, Pennacchio, Len A, Visel, Axel, Dickel, Diane E, Silverman, Jill L, Nord, Alex S
المصدر: Genome Medicine. 13(1)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Neurodegenerative, Human Genome, Behavioral and Social Science, Epilepsy, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Animals, Attention, Base Sequence, Brain, Chromatin, Conserved Sequence, Disease Models, Animal, Electroencephalography, Evolution, Molecular, Female, Gene Expression Regulation, HEK293 Cells, Heterozygote, Homozygote, Humans, Male, Maze Learning, Memory Disorders, Mice, Inbred C57BL, NAV1.1 Voltage-Gated Sodium Channel, Neurons, Open Field Test, Phenotype, Protein Binding, Regulatory Sequences, Nucleic Acid, Sequence Deletion, Survival Analysis, Temperature, Trans-Activators, Mice, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6ck6m0x4Test
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4دورية أكاديمية
المؤلفون: Roemmich, Alexa Joanna, Vu, Thy, Lukacsovich, Tamas, Hawkins, Charlesice, Schutte, Soleil S, O’Dowd, Diane K
المصدر: eNeuro. 8(5)
مصطلحات موضوعية: Epilepsy, Genetics, Brain Disorders, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Drosophila, Epilepsies, Myoclonic, GABAergic Neurons, Humans, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, electrophysiology, epilepsy, SCN1A, sodium channel
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1767v8gcTest
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5دورية أكاديمية
المؤلفون: Das, Antara, Zhu, Bingyao, Xie, Yunyao, Zeng, Lisha, Pham, An T, Neumann, Jonathan C, Safrina, Olga, Benavides, Daniel R, MacGregor, Grant R, Schutte, Soleil S, Hunt, Robert F, O’Dowd, Diane K
المصدر: eNeuro. 8(2)
مصطلحات موضوعية: Basic Behavioral and Social Science, Behavioral and Social Science, Brain Disorders, Neurodegenerative, Neurosciences, Epilepsy, Genetics, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Interneurons, Mice, Mice, Inbred C57BL, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Seizures, Seizures, Febrile, CRISPR/Cas9, epilepsy, GEFS+, parvalbumin interneurons, SCN1A, seizures
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1b90h1jmTest
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6دورية أكاديمية
المؤلفون: Galer, Peter D, Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E, Pendziwiat, Manuela, Helbig, Katherine L, Ellis, Colin A, Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Group, NCEE Study, Investigators, EPGP, Consortium, EuroEPINOMICS-RES, Network, Genomics Research and Innovation, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo
المصدر: American Journal of Human Genetics. 107(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Epilepsy, Prevention, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Child, Preschool, Cohort Studies, Female, GABA Plasma Membrane Transport Proteins, Gene Expression, Gene Ontology, Humans, Male, Munc18 Proteins, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Semantics, Shab Potassium Channels, Spasms, Infantile, Speech Disorders, Terminology as Topic, Exome Sequencing, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Human Phenotype Ontology, childhood epilepsies, computational phenotypes, developmental and epileptic encephalopathies, electronic medical records, neurogenetic disorders, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1jp636w4Test
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7دورية أكاديمية
المصدر: Residência Pediátrica, Vol 13, Iss 2 (2023)
مصطلحات موضوعية: loss of function mutation, epilepsy, nav1.1 voltage-gated sodium channel, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://residenciapediatrica.com.br/detalhes/1321/mutacao%20no%20gene%20scn1a%20e%20suas%20diferentes%20expressoes%20fenotipicas%20-%20comparacao%20de%20dois%20casosTest; https://doaj.org/toc/2236-6814Test
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8دورية أكاديمية
المؤلفون: Tai, Chao, Chang, Che-Wei, Yu, Gui-Qiu, Lopez, Isabel, Yu, Xinxing, Wang, Xin, Guo, Weikun, Mucke, Lennart
المصدر: Neuron. 106(3)
مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Prevention, Behavioral and Social Science, Genetics, Mental Health, Autism, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Animals, Autistic Disorder, Binding Sites, Brain, Cells, Cultured, HEK293 Cells, Humans, Megalencephaly, Membrane Proteins, Mice, Mice, Inbred C57BL, Microfilament Proteins, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins, PTEN Phosphohydrolase, Phosphatidylinositol 3-Kinases, Proline-Rich Protein Domains, Protein Binding, Rats, Rats, Sprague-Dawley, tau Proteins, Akt, Cntnap2, PI3 kinase, PTEN, Scn1a, Shank3, autism spectrum disorders, mTOR, megalencephaly, tau, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2gw8s59sTest
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9دورية أكاديمية
المؤلفون: Hanson, Jesse E, Ma, Keran, Elstrott, Justin, Weber, Martin, Saillet, Sandrine, Khan, Abdullah S, Simms, Jeffrey, Liu, Benjamin, Kim, Thomas A, Yu, Gui-Qiu, Chen, Yelin, Wang, Tzu-Ming, Jiang, Zhiyu, Liederer, Bianca M, Deshmukh, Gauri, Solanoy, Hilda, Chan, Connie, Sellers, Benjamin D, Volgraf, Matthew, Schwarz, Jacob B, Hackos, David H, Weimer, Robby M, Sheng, Morgan, Gill, T Michael, Scearce-Levie, Kimberly, Palop, Jorge J
المصدر: Cell reports. 30(2)
مصطلحات موضوعية: Brain, CHO Cells, Animals, Mice, Inbred C57BL, Humans, Cricetulus, Mice, Alzheimer Disease, Epilepsies, Myoclonic, Disease Models, Animal, Cyclopropanes, Nitriles, Pyrazoles, Thiazoles, Receptors, N-Methyl-D-Aspartate, Behavior, Animal, Cognition, Allosteric Regulation, Male, APP, EEG, J20, MK-801, Nav1.1, SCN1A, epilepsy, interneuron, learning, memory, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Intellectual and Developmental Disabilities (IDD), Dementia, Brain Disorders, Behavioral and Social Science, Neurosciences, Neurodegenerative, Acquired Cognitive Impairment, Aging, Alzheimer's Disease, 2.1 Biological and endogenous factors, Aetiology, Neurological, Mental health, Biochemistry and Cell Biology, Medical Physiology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2sx9c1v5Test
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10دورية أكاديمية
المؤلفون: Alexander Bryson, Steven Petrou
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: epilepsy, Nav1.1, SCN1A, neural circuits, homeostatic adaptation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1173460/fullTest; https://doaj.org/toc/1664-2295Test