المؤلفون: Liang Q; Department of Neuroscience,, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, 19107, USA.; Jack and Vicki Farber Institute for Neuroscience and the Jefferson Synaptic Biology Center, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, 19107, USA., Chi G; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK., Cirqueira L; Laboratorio de Biologia Teorica e Computacional, University of Brasilia, Brasilia, Brazil., Zhi L; Department of Neuroscience,, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, 19107, USA.; Jack and Vicki Farber Institute for Neuroscience and the Jefferson Synaptic Biology Center, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, 19107, USA., Marasco A; Autifony Srl, Istituto di Ricerca Pediatrica Citta' della Speranza, Via Corso Stati Uniti, 4f, 35127, Padua, Italy., Pilati N; Autifony Srl, Istituto di Ricerca Pediatrica Citta' della Speranza, Via Corso Stati Uniti, 4f, 35127, Padua, Italy., Gunthorpe MJ; Autifony Therapeutics, Ltd, Stevenage Bioscience Catalyst, Gunnels Wood Road, Stevenage, SG1 2FX, UK., Alvaro G; Autifony Srl, Istituto di Ricerca Pediatrica Citta' della Speranza, Via Corso Stati Uniti, 4f, 35127, Padua, Italy., Large CH; Autifony Therapeutics, Ltd, Stevenage Bioscience Catalyst, Gunnels Wood Road, Stevenage, SG1 2FX, UK., Sauer DB; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK., Treptow W; Laboratorio de Biologia Teorica e Computacional, University of Brasilia, Brasilia, Brazil., Covarrubias M; Department of Neuroscience,, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, 19107, USA. Manuel.Covarrubias@jefferson.edu.; Jack and Vicki Farber Institute for Neuroscience and the Jefferson Synaptic Biology Center, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, 19107, USA. Manuel.Covarrubias@jefferson.edu.

المصدر: Nature communications [Nat Commun] 2024 Mar 21; Vol. 15 (1), pp. 2533. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Shaw Potassium Channels*/metabolism, Binding Sites

المؤلفون: Clatot J; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA 19104., Currin CB; The Institute of Science and Technology Austria, Klosterneuburg 3400, Austria., Liang Q; Department of Neuroscience and Vickie and Jack Farber Institute for Neuroscience, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA 19107., Pipatpolkai T; Department of Applied Physics, Science for Life Laboratory, Royal Institute of Technology, Solna SE-171 21, Sweden., Massey SL; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104., Delemotte L; Department of Applied Physics, Science for Life Laboratory, Royal Institute of Technology, Solna SE-171 21, Sweden., Vogels TP; The Institute of Science and Technology Austria, Klosterneuburg 3400, Austria., Covarrubias M; Department of Neuroscience and Vickie and Jack Farber Institute for Neuroscience, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA 19107., Goldberg EM; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; The Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.; The Department of Neuroscience, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Jan 16; Vol. 121 (3), pp. e2307776121. Date of Electronic Publication: 2024 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Shaw Potassium Channels*/genetics , Epilepsy*/genetics, Humans ; Interneurons ; Cerebral Cortex ; Mutation

المؤلفون: Spinelli S; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Remigante A; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Liuni R; Institute of Pharmacology and Toxicology, Paracelsus Medical University, Salzburg, Austria., Mantegna G; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Legname G; Laboratory of Prion Biology, Department of Neuroscience, Scuola Internazionale Superiore di Studi Avanzati (SISSA), Trieste, Italy., Marino A; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Morabito R; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, Italy., Dossena S; Institute of Pharmacology and Toxicology, Paracelsus Medical University, Salzburg, Austria.; Research and Innovation Center Regenerative Medicine and Novel Therapies (FIZ RM and NT), Paracelsus Medical University, Salzburg, Austria.

المصدر: Aging cell [Aging Cell] 2024 Aug; Vol. 23 (8), pp. e14185. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101130839 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-9726 (Electronic) Linking ISSN: 14749718 NLM ISO Abbreviation: Aging Cell Subsets: MEDLINE

مواضيع طبية MeSH: Oxidative Stress*/drug effects , Melatonin*/pharmacology , Melatonin*/metabolism , Cellular Senescence*/drug effects, Humans ; Shaw Potassium Channels/metabolism ; Shaw Potassium Channels/genetics ; Animals ; Reactive Oxygen Species/metabolism ; Antioxidants/pharmacology ; Antioxidants/metabolism ; Mice

المؤلفون: G S B Lima PL; Faculty of Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil., Nobrega PR; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil.; Centro Universitário Christus, Fortaleza, Ceara, Brazil., Freua F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Braga-Neto P; Division of Neurology, Federal University of Ceara, Fortaleza, Ceara, Brazil., Paiva ARB; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil., Guimarães TG; Movement Disorders Center, Department of Neurology, University of Sao Paulo, Av. Dr. Eneas de Carvalho Aguiar, 255, 5th Floor, Room 5084, Cerqueira Cesar, Sao Paulo, Sao Paulo, 05403-900, Brazil. thiagogguimaraesneurologia@gmail.com., Kok F; Neurogenetics Center, Department of Neurology, University of Sao Paulo, Sao Paulo, Brazil.

المصدر: BMC neurology [BMC Neurol] 2024 May 23; Vol. 24 (1), pp. 169. Date of Electronic Publication: 2024 May 23.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Myoclonic Epilepsies, Progressive*/complications , Myoclonic Epilepsies, Progressive*/diagnosis , Seizures*/diagnosis , Seizures*/complications , Seizures*/etiology , Seizures*/drug therapy, Humans ; Myoclonus/diagnosis ; Myoclonus/etiology ; Myoclonus/complications ; Myoclonus/drug therapy ; Male ; Shaw Potassium Channels/genetics ; Female ; Electroencephalography/methods

المؤلفون: Clatot J; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ginn N; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada., Goldberg EM; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Neuroscience, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Jan; Vol. 10 (1), pp. 111-117. Date of Electronic Publication: 2022 Nov 23.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Intellectual Disability*/genetics , Myoclonic Epilepsies, Progressive*/genetics , Shaw Potassium Channels*/genetics, Animals ; Ataxia/genetics ; Mammals ; Mutation, Missense ; Syndrome

المؤلفون: Xu P; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390., Shimomura K; Department of Neurobiology, Northwestern University, Evanston, IL 60208., Lee C; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390., Gao X; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390., Simpson EH; Department of Psychiatry, Columbia University, New York, NY 10032.; Research Foundation for Mental Hygiene, New York State Psychiatric Institute, New York, NY 10032., Huang G; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390., Joseph CM; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390., Kumar V; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390., Ge WP; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390.; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390-9152., Pawlowski KS; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390-9152., Frye MD; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX 75390., Kourrich S; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX 75390., Kandel ER; Department of Psychiatry, Columbia University, New York, NY 10032.; Department of Neuroscience, Columbia University, New York, NY 10032.; Kavli Institute of Brain Science, Columbia University, New York, NY 10032.; Mortimer B. Zuckerman Mind Brain Behavior Institute, Columbia University, New York, NY 10032.; HHMI, Columbia University, New York, NY 10032., Takahashi JS; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390.; HHMI, University of Texas Southwestern Medical Center, Dallas, TX 75390.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Aug 02; Vol. 119 (31), pp. e2204901119. Date of Electronic Publication: 2022 Jul 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Hippocampus*/physiopathology , Learning Disabilities*/genetics , Memory* , Mutation, Missense* , Shaw Potassium Channels*/genetics , Shaw Potassium Channels*/physiology, Action Potentials/physiology ; Animals ; Mice ; Mice, Inbred C57BL

المؤلفون: Chi G; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK., Liang Q; Department of Neuroscience and Vickie and Jack Farber Institute for Neuroscience, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, 19107, UK., Sridhar A; Department of Applied Physics, Science for Life Laboratory, KTH, Solna, Sweden., Cowgill JB; Department of Applied Physics, Science for Life Laboratory, KTH, Solna, Sweden., Sader K; Materials and Structural Analysis, Thermo Fisher Scientific, Achtseweg Noord 5, 5651 GG, Eindhoven, Netherlands., Radjainia M; Materials and Structural Analysis, Thermo Fisher Scientific, Achtseweg Noord 5, 5651 GG, Eindhoven, Netherlands., Qian P; Materials and Structural Analysis, Thermo Fisher Scientific, Achtseweg Noord 5, 5651 GG, Eindhoven, Netherlands., Castro-Hartmann P; Materials and Structural Analysis, Thermo Fisher Scientific, Achtseweg Noord 5, 5651 GG, Eindhoven, Netherlands., Venkaya S; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Exscientia Ltd., The Schrödinger Building, Heatley Road, The Oxford Science Park, Oxford, OX4 4GE, UK., Singh NK; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK., McKinley G; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK., Fernandez-Cid A; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Exact Sciences Ltd., The Sherard Building, Edmund Halley Road, The Oxford Science Park, Oxford, OX4 4DQ, UK., Mukhopadhyay SMM; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Exscientia Ltd., The Schrödinger Building, Heatley Road, The Oxford Science Park, Oxford, OX4 4GE, UK., Burgess-Brown NA; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK.; Exact Sciences Ltd., The Sherard Building, Edmund Halley Road, The Oxford Science Park, Oxford, OX4 4DQ, UK., Delemotte L; Department of Applied Physics, Science for Life Laboratory, KTH, Solna, Sweden., Covarrubias M; Department of Neuroscience and Vickie and Jack Farber Institute for Neuroscience, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, 19107, UK., Dürr KL; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK. katharina.duerr@omass.com.; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7DQ, UK. katharina.duerr@omass.com.; OMass Therapeutics, Ltd., The Schrödinger Building, Heatley Road, The Oxford Science Park, Oxford, OX4 4GE, UK. katharina.duerr@omass.com.

المصدر: Nature communications [Nat Commun] 2022 Jul 15; Vol. 13 (1), pp. 4087. Date of Electronic Publication: 2022 Jul 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Ion Channel Gating* , Shaw Potassium Channels*/chemistry , Shaw Potassium Channels*/genetics , Shaw Potassium Channels*/metabolism, Cryoelectron Microscopy ; Humans ; Molecular Dynamics Simulation ; Protein Structure, Secondary ; Static Electricity

المؤلفون: Page CE; Department of Neuroscience, The Ohio State University, Columbus, OH, United States., Coutellier L; Department of Neuroscience, The Ohio State University, Columbus, OH, United States; Department of Psychology, The Ohio State University, Columbus, OH, United States. Electronic address: Coutellier.8@osu.edu.

المصدر: Neuroscience [Neuroscience] 2024 Feb 06; Vol. 538, pp. 68-79. Date of Electronic Publication: 2023 Dec 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 7605074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7544 (Electronic) Linking ISSN: 03064522 NLM ISO Abbreviation: Neuroscience Subsets: MEDLINE

مواضيع طبية MeSH: Potassium Channels, Voltage-Gated*/metabolism, Male ; Mice ; Female ; Animals ; Neurons/metabolism ; Interneurons/metabolism ; Brain/metabolism ; Anxiety/metabolism ; Shaw Potassium Channels/metabolism

المؤلفون: Vetri L; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Calì F; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Saccone S; Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy., Vinci M; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Chiavetta NV; Oasi Research Institute-IRCCS, 94018 Troina, Italy., Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy., Roccella M; Department of Psychology, Educational Science and Human Movement, University of Palermo, 90141 Palermo, Italy., Costanza C; Department of Psychology, Educational Science and Human Movement, University of Palermo, 90141 Palermo, Italy., Elia M; Oasi Research Institute-IRCCS, 94018 Troina, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 17; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Generalized* , Neurodevelopmental Disorders*, Humans ; Exome Sequencing ; Mosaicism ; Molecular Biology ; Shaw Potassium Channels

المؤلفون: Gunthorpe MJ; Autifony Therapeutics Ltd, Stevenage Bioscience Catalyst, Gunnels Wood Road, Stevenage, SG1 2FX, UK. martin.gunthorpe@autifony.com.

المصدر: Nature communications [Nat Commun] 2022 Jul 15; Vol. 13 (1), pp. 4086. Date of Electronic Publication: 2022 Jul 15.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Brain*/metabolism , Shaw Potassium Channels*/metabolism, Action Potentials