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

الوصول الحر: https://escholarship.org/uc/item/44z2994kTest
https://escholarship.org/content/qt44z2994k/qt44z2994k.pdfTest

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

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

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

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

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

المؤلفون: Brenda Klemm Arci Mattos de Freitas Alves, Flávia Nardes dos Santos

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

الوصول الحر: https://doaj.org/article/fbc467de8928476da43ae4b9fb8c6d3aTest

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

المؤلفون: Heiland, Mona, Connolly, Niamh M.C., Mamad, Omar, Nguyen, Ngoc T., Kesavan, Jaideep C., Langa, Elena, Fanning, Kevin, Sanfeliu, Albert, Yan, Yan, Su, Junyi, Venø, Morten T., Costard, Lara S., Neubert, Valentin, Engel, Tobias, Hill, Thomas D.M., Freiman, Thomas M., Mahesh, Arun, Tiwari, Vijay K., Rosenow, Felix, Bauer, Sebastian, Kjems, Jørgen, Morris, Gareth, Henshall, David C.

المصدر: Heiland , M , Connolly , N M C , Mamad , O , Nguyen , N T , Kesavan , J C , Langa , E , Fanning , K , Sanfeliu , A , Yan , Y , Su , J , Venø , M T , Costard , L S , Neubert , V , Engel , T , Hill , T D M , Freiman , T M , Mahesh , A , Tiwari , V K , Rosenow , F , Bauer , S , Kjems , J , Morris , G & Henshall ....

مصطلحات موضوعية: adeno-associated virus, antisense oligonucleotides, drug resistance, epilepsy, noncoding RNA, MicroRNAs/genetics, Seizures/chemically induced, Humans, Rats, NAV1.1 Voltage-Gated Sodium Channel/genetics, NAV1.3 Voltage-Gated Sodium Channel/genetics, Animals, Induced Pluripotent Stem Cells/metabolism, Mice, Voltage-Gated Sodium Channels/genetics

العلاقة: https://pure.au.dk/portal/en/publications/2de8de6c-99c2-4c83-8833-16cd9f45f9cfTest

الإتاحة: https://doi.org/10.1073/pnas.2216658120Test
https://pure.au.dk/portal/en/publications/2de8de6c-99c2-4c83-8833-16cd9f45f9cfTest
http://www.scopus.com/inward/record.url?scp=85165518921&partnerID=8YFLogxKTest

المؤلفون: Martins Custodio, Helena, Clayton, Lisa M, Bellampalli, Ravishankara, Pagni, Susanna, Silvennoinen, Katri, Caswell, Richard, Brunklaus, Andreas, Guerrini, Renzo, Koeleman, Bobby P C, Lemke, Johannes R, Møller, Rikke S, Scheffer, Ingrid E, Weckhuysen, Sarah, Zara, Federico, Zuberi, Sameer, Kuchenbaecker, Karoline, Balestrini, Simona, Mills, James D, Sisodiya, Sanjay M

المصدر: Martins Custodio , H , Clayton , L M , Bellampalli , R , Pagni , S , Silvennoinen , K , Caswell , R , Genomics England Research Consortium , Brunklaus , A , Guerrini , R , Koeleman , B P C , Lemke , J R , Møller , R S , Scheffer , I E , Weckhuysen , S , Zara , F , Zuberi , S , Kuchenbaecker , K , Balestrini , S , Mills , J D & Sisodiya , S M 2023 , ' Widespread genomic influences on phenotype in Dravet ....

مصطلحات موضوعية: Epilepsies, Myoclonic/genetics, Epilepsy/genetics, Genomics, Humans, NAV1.1 Voltage-Gated Sodium Channel/genetics, Phenotype

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/c52c3e27-b091-4de3-9d33-f9284be8f1d7Test

الإتاحة: https://doi.org/10.1093/brain/awad111Test
https://portal.findresearcher.sdu.dk/da/publications/c52c3e27-b091-4de3-9d33-f9284be8f1d7Test
https://findresearcher.sdu.dk/ws/files/240261203/Open_Access_Version.pdfTest