المؤلفون: Espino, Cyrrus M, Nagaraja, Chetan, Ortiz, Serena, Dayton, Jacquelyn R, Murali, Akash R, Ma, Yanki, Mann, Emari L, Garlapalli, Snigdha, Wohlgemuth, Ross P, Brashear, Sarah E, Smith, Lucas R, Wilkinson, Katherine A, Griffith, Theanne N

المصدر: Science Advances. 11(2)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurosciences, Animals, Proprioception, Mice, Knockout, Mice, NAV1.6 Voltage-Gated Sodium Channel, NAV1.1 Voltage-Gated Sodium Channel, Muscle, Skeletal, Voltage-Gated Sodium Channels

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8jp012vn
https://escholarship.org/content/qt8jp012vn/qt8jp012vn.pdf

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

URL الوصول: https://escholarship.org/uc/item/44z2994k
https://escholarship.org/content/qt44z2994k/qt44z2994k.pdf

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, Genetics, 2.1 Biological and endogenous factors, 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

URL الوصول: https://escholarship.org/uc/item/5r96s5gc
https://escholarship.org/content/qt5r96s5gc/qt5r96s5gc.pdf

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, Brain Disorders, Neurodegenerative, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Epilepsy, 2.1 Biological and endogenous factors, 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

URL الوصول: https://escholarship.org/uc/item/6ck6m0x4
https://escholarship.org/content/qt6ck6m0x4/qt6ck6m0x4.pdf

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

URL الوصول: https://escholarship.org/uc/item/1767v8gc
https://escholarship.org/content/qt1767v8gc/qt1767v8gc.pdf

المؤلفون: Cannon, Stephen

المصدر: The Journal of Clinical Investigation. 131(8)

مصطلحات موضوعية: Animals, Channelopathies, Epilepsies, Myoclonic, Epilepsy, Interneurons, Mice, NAV1.1 Voltage-Gated Sodium Channel

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5nz7t6zp
https://escholarship.org/content/qt5nz7t6zp/qt5nz7t6zp.pdf

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: Biomedical and Clinical Sciences, Neurosciences, Neurodegenerative, Epilepsy, Genetics, Brain Disorders, 2.1 Biological and endogenous factors, 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

URL الوصول: https://escholarship.org/uc/item/1b90h1jm
https://escholarship.org/content/qt1b90h1jm/qt1b90h1jm.pdf

المؤلفون: Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici

المصدر: Biomedicines, Vol 12, Iss 8, p 1698 (2024)

مصطلحات موضوعية: SCN1A, Nav1.1, epilepsy, patch-clamp, biallelic inheritance, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/8/1698; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/1301cdd3bed04a10ad83ef8e40aba0bf

المؤلفون: Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas

المصدر: Gallagher , D , Pérez-Palma , E , Bruenger , T , Ghanty , I , Brilstra , E , Ceulemans , B , Chemaly , N , de Lange , I , Depienne , C , Guerrini , R , Mei , D , Møller , R S , Nabbout , R , Regan , B M , Schneider , A L , Scheffer , I E , Schoonjans , A S , Symonds , J D , Weckhuysen , S , Zuberi , S M , Lal , D & Brunklaus , A 2024 , ' Genotype–phenotype ....

مصطلحات موضوعية: Dravet syndrome, GEFS+, genotype–phenotype associations, SCN1A, severe myoclonic epilepsy of infancy, Epilepsies, Myoclonic/genetics, Genetic Association Studies, Mutation/genetics, Humans, Status Epilepticus, NAV1.1 Voltage-Gated Sodium Channel/genetics, Seizures, Febrile/genetics, Phenotype, Epilepsy/genetics, Retrospective Studies

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/40f9e55e-7640-43a1-a352-78c1299f0a67

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/40f9e55e-7640-43a1-a352-78c1299f0a67
https://doi.org/10.1111/epi.17882
https://findresearcher.sdu.dk/ws/files/260028774/Open_Access_Version.pdf

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

URL الوصول: https://escholarship.org/uc/item/1jp636w4

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

URL الوصول: https://escholarship.org/uc/item/2gw8s59s

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

URL الوصول: https://escholarship.org/uc/item/2sx9c1v5

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

Relation: https://residenciapediatrica.com.br/detalhes/1321/mutacao%20no%20gene%20scn1a%20e%20suas%20diferentes%20expressoes%20fenotipicas%20-%20comparacao%20de%20dois%20casos; https://doaj.org/toc/2236-6814

URL الوصول: https://doaj.org/article/fbc467de8928476da43ae4b9fb8c6d3a

المؤلفون: Osteen, Jeremiah D, Sampson, Kevin, Iyer, Vivek, Julius, David, Bosmans, Frank

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 114(26)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Neurodegenerative, Brain Disorders, 1.1 Normal biological development and functioning, Neurological, Acetamides, Animals, Humans, Ion Channel Gating, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Protein Domains, Spider Venoms, Spiders, Thiazoles, Xenopus laevis, Na(v)1.1, fast inactivation, slow inactivation, Hm1a spider toxin, ICA-121431, Nav1.1

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/36f012n1
https://escholarship.org/content/qt36f012n1/qt36f012n1.pdf

المؤلفون: Ritter-Makinson, Stefanie, Clemente-Perez, Alexandra, Higashikubo, Bryan, Cho, Frances S, Holden, Stephanie S, Bennett, Eric, Chkhaidze, Ana, Rooda, Oscar HJ Eelkman, Cornet, Marie-Coralie, Hoebeek, Freek E, Yamakawa, Kazuhiro, Cilio, Maria Roberta, Delord, Bruno, Paz, Jeanne T

المصدر: Cell Reports. 26(1)

مصطلحات موضوعية: Biological Sciences, Neurosciences, Epilepsy, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Disease Models, Animal, Epilepsies, Myoclonic, Humans, Mice, Seizures, Thalamus, Dravet syndrome, Nav1.1, SK current, Scn1a, epilepsy, optogenetics, reticular thalamic nucleus, seizures, thalamocortical circuits, thalamocortical oscillations, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7cd743rx

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

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1173460/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/bcc95d0caef0473abce9cda8669cc71f

المؤلفون: Salvatierra, Juan, Castro, Joel, Erickson, Andelain, Li, Qian, Braz, Joao, Gilchrist, John, Grundy, Luke, Rychkov, Grigori Y, Deiteren, Annemie, Rais, Rana, King, Glenn F, Slusher, Barbara S, Basbaum, Allan, Pasricha, Pankaj J, Brierley, Stuart M, Bosmans, Frank

المصدر: JCI insight. 3(11)

مصطلحات موضوعية: Colon, Ganglia, Spinal, Nociceptors, Animals, Humans, Mice, Irritable Bowel Syndrome, Disease Models, Animal, Trinitrobenzenesulfonic Acid, Pain Measurement, Drug Evaluation, Preclinical, Drug Stability, Maximum Tolerated Dose, Dose-Response Relationship, Drug, Male, Chronic Pain, Visceral Pain, NAV1.1 Voltage-Gated Sodium Channel, Voltage-Gated Sodium Channel Blockers, Gastroenterology, Ion channels, Neuroscience, Pain

URL الوصول: https://escholarship.org/uc/item/91p8f6ph

المؤلفون: Martinez-Losa, Magdalena, Tracy, Tara E, Ma, Keran, Verret, Laure, Clemente-Perez, Alexandra, Khan, Abdullah S, Cobos, Inma, Ho, Kaitlyn, Gan, Li, Mucke, Lennart, Alvarez-Dolado, Manuel, Palop, Jorge J

المصدر: Neuron. 98(1)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Mental Health, Basic Behavioral and Social Science, Brain Disorders, Transplantation, Acquired Cognitive Impairment, Alzheimer's Disease, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Aging, Behavioral and Social Science, Underpinning research, Aetiology, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Action Potentials, Alzheimer Disease, Animals, Brain, Brain Waves, Cognition, Disease Models, Animal, Gene Expression, Hippocampus, Humans, Interneurons, Locomotion, Maze Learning, Mice, Mice, Transgenic, NAV1.1 Voltage-Gated Sodium Channel, EEG, GABAergic, Scn1a, cell therapy, epileptic, learning and memory, oscillations, parvalbumin, seizures, somatostatin, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8qk3556x

المؤلفون: Drouillas, Benoît, Brocard, Cécile, Zanella, Sébastien, Bos, Rémi, Brocard, Frédéric

المساهمون: Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), ANR-21-CE17-0060,SpasT-SCI-T,Démasquer la spasticité pour mieux la traiter(2021)

المصدر: ISSN: 2211-1247.

مصطلحات موضوعية: locomotion, posture, spinal cord, motoneuron, interneuron, pacemakers, CPG, bistability, Nav1.6, Nav1.1, [SDV]Life Sciences [q-bio]

Relation: hal-04245363; https://hal.science/hal-04245363; https://hal.science/hal-04245363/document; https://hal.science/hal-04245363/file/Drouillas%20et%20al.%202023.pdf

الاتاحة: https://hal.science/hal-04245363
https://hal.science/hal-04245363/document
https://hal.science/hal-04245363/file/Drouillas%20et%20al.%202023.pdf
https://doi.org/10.1016/j.celrep.2023.113085

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

الاتاحة: https://pure.au.dk/portal/en/publications/2de8de6c-99c2-4c83-8833-16cd9f45f9cf
https://doi.org/10.1073/pnas.2216658120
http://www.scopus.com/inward/record.url?scp=85165518921&partnerID=8YFLogxK