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Wyszukujesz frazę ""NAV1.1 Voltage-Gated Sodium Channel"" wg kryterium: Temat


Tytuł :
A selective Na V 1.1 activator with potential for treatment of Dravet syndrome epilepsy.
Autorzy :
Chow CY; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
Chin YKY; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
Ma L; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
Undheim EAB; Centre for Advanced Imaging, The University of Queensland, Brisbane, QLD 4072, Australia.
Herzig V; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
King GF; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia. Electronic address: .
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Źródło :
Biochemical pharmacology [Biochem Pharmacol] 2020 Nov; Vol. 181, pp. 113991. Date of Electronic Publication: 2020 Apr 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsies, Myoclonic/*drug therapy
Interneurons/*drug effects
NAV1.1 Voltage-Gated Sodium Channel/*metabolism
Peptides/*pharmacology
Sodium Channel Agonists/*pharmacology
Action Potentials/drug effects ; Amino Acid Sequence ; Animals ; Disease Models, Animal ; Epilepsies, Myoclonic/metabolism ; HEK293 Cells ; Humans ; Interneurons/metabolism ; Mice ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Patch-Clamp Techniques ; Peptides/chemistry ; Peptides/genetics ; Sequence Homology, Amino Acid ; Sodium Channel Agonists/chemistry ; Spider Venoms/metabolism
Czasopismo naukowe
Tytuł :
Convulsive seizures and some behavioral comorbidities are uncoupled in the Scn1a Dravet syndrome mouse model.
Autorzy :
Fadila S; Goldschleger Eye Research Institute, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Quinn S; Goldschleger Eye Research Institute, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Turchetti Maia A; Goldschleger Eye Research Institute, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Yakubovich D; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center of Israel, Petah Tikvah, Israel.
Ovadia M; Goldschleger Eye Research Institute, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Anderson KL; Goldschleger Eye Research Institute, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Giladi M; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Rubinstein M; Goldschleger Eye Research Institute, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
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Źródło :
Epilepsia [Epilepsia] 2020 Oct; Vol. 61 (10), pp. 2289-2300. Date of Electronic Publication: 2020 Aug 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Models, Animal*
NAV1.1 Voltage-Gated Sodium Channel*/genetics
Epilepsies, Myoclonic/*physiopathology
Psychomotor Agitation/*physiopathology
Seizures/*physiopathology
Animals ; Comorbidity ; Electroencephalography/methods ; Epilepsies, Myoclonic/genetics ; Female ; Male ; Mice ; Mice, 129 Strain ; Mice, Inbred C57BL ; Mice, Transgenic ; Seizures/genetics
Czasopismo naukowe
Tytuł :
Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application.
Autorzy :
Brunklaus A; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.
Lal D; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH, USA.
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Źródło :
Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Jul; Vol. 62 (7), pp. 784-792. Date of Electronic Publication: 2020 Mar 30.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Electrophysiological Phenomena/*physiology
Epilepsy/*physiopathology
Gene Expression/*physiology
NAV1.1 Voltage-Gated Sodium Channel/*physiology
Neurodevelopmental Disorders/*physiopathology
Electrophysiological Phenomena/genetics ; Epilepsy/genetics ; Gene Expression/genetics ; Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Neurodevelopmental Disorders/genetics
Czasopismo naukowe
Tytuł :
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Autorzy :
Kluckova D; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
Kolnikova M; Department of Pediatric Neurology, Comenius University Medical School and National Institute of Children's Diseases, Limbova 1, Bratislava, 833 40, Slovakia.
Lacinova L; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Dubravská cesta 9, Bratislava, 840 05, Slovakia.
Jurkovicova-Tarabova B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Dubravská cesta 9, Bratislava, 840 05, Slovakia.
Foltan T; Department of Pediatric Neurology, Comenius University Medical School and National Institute of Children's Diseases, Limbova 1, Bratislava, 833 40, Slovakia.
Demko V; Department of Plant Physiology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
Kadasi L; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Dubravska cesta 9, 845 05, Bratislava, Slovakia.
Ficek A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia.
Soltysova A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, Bratislava, 842 15, Slovakia. .; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Dubravska cesta 9, 845 05, Bratislava, Slovakia. .
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Źródło :
Scientific reports [Sci Rep] 2020 Jun 24; Vol. 10 (1), pp. 10288. Date of Electronic Publication: 2020 Jun 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy/*genetics
Membrane Potentials/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Adolescent ; Age of Onset ; Brain/diagnostic imaging ; Brain/physiopathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diagnostic Errors/prevention & control ; Epilepsy/diagnosis ; Epilepsy/physiopathology ; Female ; Genetic Association Studies ; HEK293 Cells ; Humans ; Magnetic Resonance Imaging ; Male ; Mutagenesis ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; Patch-Clamp Techniques ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Sodium/metabolism ; Transfection
Czasopismo naukowe
Tytuł :
[Analysis of SCN1A gene variants among patients with Dravet syndrome].
Autorzy :
Li L; Department of Pediatrics, Luzhou Women and Children's Health Care Hospital, Luzhou, Sichuan 646000, China. .
Zhu D
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Feb 10; Vol. 38 (2), pp. 158-161.
Typ publikacji :
Journal Article
MeSH Terms :
Epilepsies, Myoclonic*/genetics
Spasms, Infantile*/genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Genomics ; Humans ; Infant ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
Epilepsy in 2020-a new dawn.
Autorzy :
Cross JH; UCL National Institute of Health Research BRC Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Electronic address: .
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Źródło :
The Lancet. Neurology [Lancet Neurol] 2021 Jan; Vol. 20 (1), pp. 8-10.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Therapy*
Epilepsy/*therapy
Fenfluramine/*pharmacology
Serotonin Uptake Inhibitors/*pharmacology
Animals ; Clinical Trials as Topic ; Databases as Topic ; Epilepsies, Myoclonic/therapy ; Epilepsy/drug therapy ; Epilepsy/genetics ; Epilepsy/pathology ; Humans ; NAV1.1 Voltage-Gated Sodium Channel ; Neuroimaging
Czasopismo naukowe
Tytuł :
New insights into the early mechanisms of epileptogenesis in a zebrafish model of Dravet syndrome.
Autorzy :
Tiraboschi E; Chemical Neuroscience Group, Center for Molecular Medicine Norway, University of Oslo, Oslo, Norway.
Martina S; Integrative Cell Signaling Group, Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
van der Ent W; Chemical Neuroscience Group, Center for Molecular Medicine Norway, University of Oslo, Oslo, Norway.
Grzyb K; Integrative Cell Signaling Group, Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Gawel K; Chemical Neuroscience Group, Center for Molecular Medicine Norway, University of Oslo, Oslo, Norway.; Department of Experimental and Clinical Pharmacology, Medical University of Lublin, Lublin, Poland.
Cordero-Maldonado ML; Integrative Cell Signaling Group, Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Poovathingal SK; Integrative Cell Signaling Group, Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Heintz S; Chemical Neuroscience Group, Center for Molecular Medicine Norway, University of Oslo, Oslo, Norway.
Satheesh SV; Molecular Toxicology Group, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Brattespe J; Department of Biological Sciences, University of Bergen, Bergen, Norway.
Xu J; Department of Biomedicine, University of Bergen, Bergen, Norway.
Suster M; allmyhomes, Berlin, Germany.
Skupin A; Integrative Cell Signaling Group, Luxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Esguerra CV; Chemical Neuroscience Group, Center for Molecular Medicine Norway, University of Oslo, Oslo, Norway.; Department of Pharmacy, University of Oslo, Oslo, Norway.
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Źródło :
Epilepsia [Epilepsia] 2020 Mar; Vol. 61 (3), pp. 549-560. Date of Electronic Publication: 2020 Feb 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain/*physiopathology
Epilepsies, Myoclonic/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Neuronal Plasticity/*genetics
Zebrafish Proteins/*genetics
Animals ; Anticonvulsants/pharmacology ; Brain/drug effects ; Brain/metabolism ; Brain/pathology ; CRISPR-Cas Systems ; Cell Proliferation/drug effects ; Diazepam/pharmacology ; Disease Models, Animal ; Electroencephalography ; Epilepsies, Myoclonic/metabolism ; Epilepsies, Myoclonic/pathology ; Epilepsies, Myoclonic/physiopathology ; Fenfluramine/pharmacology ; GABAergic Neurons/drug effects ; GABAergic Neurons/metabolism ; GABAergic Neurons/pathology ; Gene Expression Profiling ; Gliosis/genetics ; Gliosis/pathology ; Locomotion/drug effects ; Mutation, Missense ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; Neuronal Plasticity/drug effects ; RNA-Seq ; Real-Time Polymerase Chain Reaction ; Serotonin 5-HT2 Receptor Agonists/pharmacology ; Single-Cell Analysis ; Zebrafish ; Zebrafish Proteins/metabolism
Czasopismo naukowe
Tytuł :
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Autorzy :
Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.
Du J; Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Cologne, Germany.
Steckler F; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.
Ghanty II; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.
Johannesen KM; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Fenger CD; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.
Schorge S; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.; School of Pharmacy, University College London, London, UK.
Baez-Nieto D; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Wang HR; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Allen A; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Pan JQ; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany.
Heyne H; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.
Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.
Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California.
Sheidley BR; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Craiu D; Carol Davila University of Medicine, Department of Clinical Neurosciences, Pediatric Neurology Discipline, Bucharest, Romania.; Alexandru Obregia Hospital, Pediatric Neurology Clinic, Bucharest, Romania.
Olson HE; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Weckhuysen S; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
DeJonge P; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Neuropediatrics, University of Kiel, Kiel, Germany.
Van Esch H; Department of Human Genetics and Center for Human Genetics, Laboratory for Genetics of Cognition, University Hospitals Leuven, Leuven, Belgium.
Busa T; Genetics Department, Timone Enfants University Hospital Center, Public Assistance-Marseille Hospitals, Marseille, France.
Milh M; Medical Genetics and Functional Genomics, National Institute of Health and Medical Research, Mixed Unit of Research S910, Aix-Marseille University, Marseille, France.; Hematology Laboratory, Le Mans Hospital Center, Le Mans, France.
Isidor B; Medical Genetics Department, Nantes University Hospital Center, Nantes, France.
Depienne C; Institute of Human Genetics, Essen University Hospital, Essen, Germany.; Brain and Spinal Cord Institute, National Institute of Health and Medical Research, Unit 1127, National Center for Scientific Research, Mixed Unit of Research 7225, Sorbonne Universities, Pierre and Marie Curie University, Mixed Unit of Research S 1127, Brain & Spine Institute, Paris, France.
Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Campbell AJ; School of Pharmacy, University College London, London, UK.
Dimidschstein J; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
Møller RS; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Lal D; Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.
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Źródło :
Epilepsia [Epilepsia] 2020 Mar; Vol. 61 (3), pp. 387-399. Date of Electronic Publication: 2020 Feb 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epileptic Syndromes/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
NAV1.2 Voltage-Gated Sodium Channel/*genetics
NAV1.3 Voltage-Gated Sodium Channel/*genetics
NAV1.6 Voltage-Gated Sodium Channel/*genetics
Sodium Channels/*genetics
Age of Onset ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/physiopathology ; Child ; Child, Preschool ; Codon, Nonsense ; DNA Copy Number Variations ; Electroencephalography ; Epileptic Syndromes/drug therapy ; Epileptic Syndromes/physiopathology ; Female ; Gain of Function Mutation ; Gene Deletion ; Gene Duplication ; Gene Expression ; Gene Expression Regulation, Developmental ; Genotype ; Humans ; Infant ; Infant, Newborn ; Loss of Function Mutation ; Male ; Mutation, Missense ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; NAV1.2 Voltage-Gated Sodium Channel/metabolism ; NAV1.3 Voltage-Gated Sodium Channel/metabolism ; NAV1.6 Voltage-Gated Sodium Channel/metabolism ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Sodium Channel Blockers/therapeutic use ; Sodium Channels/metabolism
Czasopismo naukowe
Tytuł :
Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy.
Autorzy :
Lu Y; Department of Biostatistics, School of Public Health, Shandong University, Jinan, 250012 Shandong, China.; Healthcare Big Data Institute of Shandong University, Jinan, 250012 Shandong, China.
Su Q; Central Laboratory, Linyi People's Hospital, Linyi, 276003 Shandong, China.
Li M; Linyi People's Hospital, Linyi, 276003 Shandong, China.
Dayimu A; Department of Biostatistics, School of Public Health, Shandong University, Jinan, 250012 Shandong, China.; Healthcare Big Data Institute of Shandong University, Jinan, 250012 Shandong, China.
Dai X; Department of Biostatistics, School of Public Health, Shandong University, Jinan, 250012 Shandong, China.; Healthcare Big Data Institute of Shandong University, Jinan, 250012 Shandong, China.
Wang Z; Department of Biostatistics, School of Public Health, Shandong University, Jinan, 250012 Shandong, China.; Healthcare Big Data Institute of Shandong University, Jinan, 250012 Shandong, China.
Che F; Central Laboratory, Linyi People's Hospital, Linyi, 276003 Shandong, China.; Department of Neurology, Linyi People's Hospital, Linyi, 276003 Shandong, China.
Xue F; Department of Biostatistics, School of Public Health, Shandong University, Jinan, 250012 Shandong, China.; Healthcare Big Data Institute of Shandong University, Jinan, 250012 Shandong, China.
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Źródło :
BioMed research international [Biomed Res Int] 2020 Feb 25; Vol. 2020, pp. 8096235. Date of Electronic Publication: 2020 Feb 25 (Print Publication: 2020).
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Epilepsy/*drug therapy
Epilepsy/*genetics
Glucuronosyltransferase/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
NAV1.2 Voltage-Gated Sodium Channel/*genetics
Valproic Acid/*therapeutic use
Adult ; Asian Continental Ancestry Group/genetics ; Female ; Genotype ; Glucuronosyltransferase/metabolism ; Humans ; Male ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; NAV1.2 Voltage-Gated Sodium Channel/metabolism ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Young Adult
Czasopismo naukowe
Tytuł :
Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants.
Autorzy :
Hata Y; Department of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Japan.
Oku Y; Department of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Japan.
Taneichi H; Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Japan.
Tanaka T; Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Japan.
Igarashi N; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan.
Niida Y; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Japan.
Nishida N; Department of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Japan. Electronic address: .
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Źródło :
Brain & development [Brain Dev] 2020 Feb; Vol. 42 (2), pp. 171-178. Date of Electronic Publication: 2019 Oct 31.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Epilepsies, Myoclonic/*genetics
Epilepsies, Myoclonic/*mortality
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Adolescent ; Autopsy ; Child, Preschool ; Death, Sudden ; Epilepsy ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel/metabolism
Czasopismo naukowe
Tytuł :
dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.
Autorzy :
Colasante G; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy. Electronic address: .
Lignani G; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Brusco S; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Di Berardino C; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Carpenter J; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Giannelli S; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Valassina N; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Bido S; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Ricci R; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Castoldi V; Experimental Neurophysiology Unit, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, 20132 Milan, Italy.
Marenna S; Experimental Neurophysiology Unit, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, 20132 Milan, Italy.
Church T; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Massimino L; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Morabito G; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Benfenati F; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, 16132 Genova, Italy; IRCCS Ospedale Policlinico San Martino, University of Genova, 16132 Genova, Italy.
Schorge S; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Leocani L; Experimental Neurophysiology Unit, Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, 20132 Milan, Italy.
Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Broccoli V; Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; CNR Institute of Neuroscience, 20129 Milan, Italy. Electronic address: .
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Źródło :
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2020 Jan 08; Vol. 28 (1), pp. 235-253. Date of Electronic Publication: 2019 Sep 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Transcriptional Activation*
CRISPR-Associated Protein 9/*genetics
Epilepsies, Myoclonic/*therapy
Genetic Therapy/*methods
Interneurons/*metabolism
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Seizures/*therapy
Action Potentials ; Animals ; Cell Line, Tumor ; Disease Models, Animal ; Female ; GABAergic Neurons/metabolism ; Hippocampus/cytology ; Hippocampus/embryology ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.
Autorzy :
Barbieri R; Biophysics Institute, National Research Council, Via De Marini 6, Genoa, Italy.
Bertelli S; Biophysics Institute, National Research Council, Via De Marini 6, Genoa, Italy.; International School of Advanced Studies (SISSA), Via Bonomea, 265, Trieste, Italy.
Pusch M; Biophysics Institute, National Research Council, Via De Marini 6, Genoa, Italy.
Gavazzo P; Biophysics Institute, National Research Council, Via De Marini 6, Genoa, Italy. .
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Źródło :
The journal of headache and pain [J Headache Pain] 2019 Nov 15; Vol. 20 (1), pp. 107. Date of Electronic Publication: 2019 Nov 15.
Typ publikacji :
Journal Article
MeSH Terms :
Migraine Disorders/*physiopathology
Migraine with Aura/*physiopathology
NAV1.1 Voltage-Gated Sodium Channel/*physiology
Pyridines/*pharmacology
Triazoles/*pharmacology
Action Potentials ; Epilepsy ; HEK293 Cells ; Humans ; Migraine Disorders/genetics ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel/chemistry ; Neurons/metabolism ; Sodium
SCR Disease Name :
Migraine, Familial Hemiplegic, 3
Czasopismo naukowe
Tytuł :
Impairment of Sharp-Wave Ripples in a Murine Model of Dravet Syndrome.
Autorzy :
Cheah CS; Departments of Neurology.
Lundstrom BN; Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905.
Catterall WA; Pharmacology, University of Washington, Seattle, Washington 98195, and.
Oakley JC; Departments of Neurology, .; Pharmacology, University of Washington, Seattle, Washington 98195, and.
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Źródło :
The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2019 Nov 13; Vol. 39 (46), pp. 9251-9260. Date of Electronic Publication: 2019 Sep 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Brain Waves*
Epilepsies, Myoclonic/*physiopathology
Hippocampus/*physiopathology
NAV1.1 Voltage-Gated Sodium Channel/*physiology
Neurons/*physiology
Animals ; Disease Models, Animal ; Female ; GABAergic Neurons/physiology ; Haploinsufficiency ; Interneurons/physiology ; Male ; Mice, Inbred C57BL ; Models, Neurological ; NAV1.1 Voltage-Gated Sodium Channel/genetics
Czasopismo naukowe
Tytuł :
Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans.
Autorzy :
Vormstein-Schneider D; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Lin JD; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Pelkey KA; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Chittajallu R; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Guo B; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Arias-Garcia MA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Allaway K; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.; NYU Langone Medical Center, New York University, New York, NY, USA.
Sakopoulos S; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Schneider G; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Stevenson O; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Vergara J; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Sharma J; McGovern Institute for Brain Research, Massachusetts Institute of Technology, Cambridge, MA, USA.
Zhang Q; McGovern Institute for Brain Research, Massachusetts Institute of Technology, Cambridge, MA, USA.
Franken TP; Systems Neurobiology Laboratories, The Salk Institute for Biological Studies, La Jolla, CA, USA.
Smith J; Systems Neurobiology Laboratories, The Salk Institute for Biological Studies, La Jolla, CA, USA.
Ibrahim LA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
M Astro KJ; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Sabri E; Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.
Huang S; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Favuzzi E; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Burbridge T; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Xu Q; Center for Genomics & Systems Biology, New York University, Abu Dhabi, UAE.
Guo L; Center for Genomics & Systems Biology, New York University, Abu Dhabi, UAE.
Vogel I; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Sanchez V; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Saldi GA; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Gorissen BL; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Yuan X; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Zaghloul KA; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Devinsky O; Comprehensive Epilepsy Center, New York University School of Medicine, New York, NY, USA.
Sabatini BL; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Batista-Brito R; Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.
Reynolds J; Systems Neurobiology Laboratories, The Salk Institute for Biological Studies, La Jolla, CA, USA.
Feng G; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; McGovern Institute for Brain Research, Massachusetts Institute of Technology, Cambridge, MA, USA.
Fu Z; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
McBain CJ; National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Fishell G; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
Dimidschstein J; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. .
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Źródło :
Nature neuroscience [Nat Neurosci] 2020 Dec; Vol. 23 (12), pp. 1629-1636. Date of Electronic Publication: 2020 Aug 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Dependovirus/*genetics
Genetic Vectors/*genetics
Interneurons/*physiology
Animals ; Callithrix ; Cerebral Cortex/cytology ; Female ; Humans ; Macaca mulatta ; Mice ; Mice, Inbred C57BL ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Neurons ; Parvalbumins/physiology ; Rats ; Rats, Sprague-Dawley ; Species Specificity ; Vasoactive Intestinal Peptide/physiology
Czasopismo naukowe
Tytuł :
Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?
Autorzy :
Vezyroglou A; Department of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
Varadkar S; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
Bast T; Kork Epilepsy Center, Kehl-Kork, Germany.; Medical Faculty of the University of Freiburg, Freiburg, Germany.
Hirsch E; Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.
Strobl K; Kork Epilepsy Center, Kehl-Kork, Germany.
Harvey AS; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.
Scheffer IE; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Florey Institute and Murdoch Children's Research Institute, Austin Health and Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.
Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Cross JH; Department of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
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Corporate Authors :
Epilepsy Surgery in SCN1A Study Group
Źródło :
Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Nov; Vol. 62 (11), pp. 1331-1335. Date of Electronic Publication: 2020 Jun 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsies, Myoclonic/*surgery
Epilepsies, Partial/*surgery
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/pathology ; Epilepsies, Myoclonic/physiopathology ; Epilepsies, Partial/genetics ; Epilepsies, Partial/pathology ; Epilepsies, Partial/physiopathology ; Female ; Humans ; Male ; Outcome Assessment, Health Care ; Young Adult
Czasopismo naukowe
Tytuł :
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Autorzy :
Galer PD; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE1 7RU, UK; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK.
McKeown SE; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Pendziwiat M; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rademacher A; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
von Spiczak S; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany; DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany.
Muhle H; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
van Baalen A; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Thomas RH; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE1 7RU, UK; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK.
Krause R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4367 Belvaux, Luxembourg.
Weber Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Department of Epileptology and Neurology, University of Aachen, 52074 Aachen, Germany.
Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: .
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Corporate Authors :
NCEE Study Group
EPGP Investigators
EuroEPINOMICS-RES Consortium
Genomics Research and Innovation Network
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 683-697. Date of Electronic Publication: 2020 Aug 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
GABA Plasma Membrane Transport Proteins/*genetics
Munc18 Proteins/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Seizures/*genetics
Spasms, Infantile/*genetics
Speech Disorders/*genetics
Child, Preschool ; Cohort Studies ; Female ; Gene Expression ; Gene Ontology ; Humans ; Male ; Mutation ; Phenotype ; Seizures/classification ; Seizures/diagnosis ; Seizures/physiopathology ; Semantics ; Shab Potassium Channels/genetics ; Spasms, Infantile/classification ; Spasms, Infantile/diagnosis ; Spasms, Infantile/physiopathology ; Speech Disorders/classification ; Speech Disorders/diagnosis ; Speech Disorders/physiopathology ; Terminology as Topic ; Whole Exome Sequencing
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
Dravet syndrome and parkinsonism: A case report investigating the dopaminergic system.
Autorzy :
Deuel L; From the Department of Neurology (L.D., E.H.M., J.P.B., D.S.K.), University of Colorado School of Medicine, Aurora, CO; Department of Pediatrics (A.E.C.), Section of Neurology, University of Colorado School of Medicine, Aurora, CO; Department of Neurosurgery (DSK), University of Colorado School of Medicine, Aurora, CO.
Collins AE; From the Department of Neurology (L.D., E.H.M., J.P.B., D.S.K.), University of Colorado School of Medicine, Aurora, CO; Department of Pediatrics (A.E.C.), Section of Neurology, University of Colorado School of Medicine, Aurora, CO; Department of Neurosurgery (DSK), University of Colorado School of Medicine, Aurora, CO.
Maa EH; From the Department of Neurology (L.D., E.H.M., J.P.B., D.S.K.), University of Colorado School of Medicine, Aurora, CO; Department of Pediatrics (A.E.C.), Section of Neurology, University of Colorado School of Medicine, Aurora, CO; Department of Neurosurgery (DSK), University of Colorado School of Medicine, Aurora, CO.
Barr JP; From the Department of Neurology (L.D., E.H.M., J.P.B., D.S.K.), University of Colorado School of Medicine, Aurora, CO; Department of Pediatrics (A.E.C.), Section of Neurology, University of Colorado School of Medicine, Aurora, CO; Department of Neurosurgery (DSK), University of Colorado School of Medicine, Aurora, CO.
Kern DS; From the Department of Neurology (L.D., E.H.M., J.P.B., D.S.K.), University of Colorado School of Medicine, Aurora, CO; Department of Pediatrics (A.E.C.), Section of Neurology, University of Colorado School of Medicine, Aurora, CO; Department of Neurosurgery (DSK), University of Colorado School of Medicine, Aurora, CO. .
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Źródło :
Neurology [Neurology] 2019 Sep 24; Vol. 93 (13), pp. 595-596. Date of Electronic Publication: 2019 Aug 23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dopaminergic Neurons/*metabolism
Epilepsies, Myoclonic/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*metabolism
Parkinsonian Disorders/*therapy
Adult ; Epilepsies, Myoclonic/complications ; Epilepsies, Myoclonic/diagnosis ; Epileptic Syndromes/complications ; Epileptic Syndromes/diagnosis ; Epileptic Syndromes/metabolism ; Humans ; Male ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Parkinsonian Disorders/complications ; Parkinsonian Disorders/diagnosis ; Spasms, Infantile/complications ; Spasms, Infantile/diagnosis ; Spasms, Infantile/metabolism
SCR Disease Name :
CDKL5 deficiency disorder
Czasopismo naukowe
Tytuł :
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Autorzy :
Xie H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Su W; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Pei J; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Gao K; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Li J; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Ma X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Wu X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address: .
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Źródło :
Epilepsy research [Epilepsy Res] 2019 Aug; Vol. 154, pp. 55-61. Date of Electronic Publication: 2019 Apr 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chloride Channels/*genetics
Epilepsy, Absence/*diagnosis
Epilepsy, Absence/*genetics
Mutation, Missense/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
NAV1.6 Voltage-Gated Sodium Channel/*genetics
Child ; Child, Preschool ; China/epidemiology ; Chloride Channels/chemistry ; Cohort Studies ; Epilepsy, Absence/epidemiology ; Female ; Genetic Variation/genetics ; Humans ; Male ; NAV1.1 Voltage-Gated Sodium Channel/chemistry ; NAV1.6 Voltage-Gated Sodium Channel/chemistry ; Protein Structure, Secondary
Czasopismo naukowe
Tytuł :
Inter-Regulation of K v 4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Autorzy :
Clatot J; Department of Cardiovascular Research, Lankenau Institute for Medical Research, Wynnewood, PA 19096, USA.; Division of Neurology, The Children's Hospital of Philadelphia, Abramson Research Center, Room 512C-D, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Neyroud N; Team 'Genomics and Pathophysiology of Myocardial Diseases', Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, Sorbonne Université, UMR_S1166, F-75013 Paris, France.; Team 'Genomics and Pathophysiology of Myocardial Diseases', Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, INSERM, UMR_S1166, F-75013 Paris, France.; Institute of Cardiometabolism and Nutrition, ICAN, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, F-75013 Paris, France.
Cox R; Department of Cardiovascular Research, Lankenau Institute for Medical Research, Wynnewood, PA 19096, USA.
Souil C; Team 'Genomics and Pathophysiology of Myocardial Diseases', Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, Sorbonne Université, UMR_S1166, F-75013 Paris, France.; Team 'Genomics and Pathophysiology of Myocardial Diseases', Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, INSERM, UMR_S1166, F-75013 Paris, France.
Huang J; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Guicheney P; Team 'Genomics and Pathophysiology of Myocardial Diseases', Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, Sorbonne Université, UMR_S1166, F-75013 Paris, France.; Team 'Genomics and Pathophysiology of Myocardial Diseases', Faculté de Médecine Pitié-Salpêtrière, 91 Boulevard de l'Hôpital, INSERM, UMR_S1166, F-75013 Paris, France.; Institute of Cardiometabolism and Nutrition, ICAN, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, F-75013 Paris, France.
Antzelevitch C; Department of Cardiovascular Research, Lankenau Institute for Medical Research, Wynnewood, PA 19096, USA.; Lankenau Heart Institute, Main Line Health System, Wynnewood, PA 19096, USA.; Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA 19104, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Jul 17; Vol. 21 (14). Date of Electronic Publication: 2020 Jul 17.
Typ publikacji :
Journal Article
MeSH Terms :
Brugada Syndrome/*metabolism
Channelopathies/*metabolism
Shal Potassium Channels/*metabolism
Spinocerebellar Ataxias/*metabolism
Voltage-Gated Sodium Channels/*metabolism
Brugada Syndrome/genetics ; Channelopathies/genetics ; Genetic Variation ; HEK293 Cells ; Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; NAV1.5 Voltage-Gated Sodium Channel/metabolism ; Point Mutation ; Shal Potassium Channels/genetics ; Spinocerebellar Ataxias/genetics ; Voltage-Gated Sodium Channels/genetics
Czasopismo naukowe
Tytuł :
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.
Autorzy :
Nissenkorn A; Service for Rare Disorders, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Almog Y; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Adler I; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Safrin M; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Brusel M; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Marom M; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Bercovich S; The Arrow Project, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
Yakubovich D; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Neonatal Intensive Care, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.
Tzadok M; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ben-Zeev B; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Rubinstein M; Goldschleger Eye Research Institute, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.; The Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło :
PloS one [PLoS One] 2019 Feb 08; Vol. 14 (2), pp. e0211901. Date of Electronic Publication: 2019 Feb 08 (Print Publication: 2019).
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Mutation, Missense*
Cognitive Dysfunction/*diagnosis
Epilepsies, Myoclonic/*diagnosis
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Action Potentials ; Amino Acid Substitution ; Child ; Child, Preschool ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/metabolism ; Cognitive Dysfunction/physiopathology ; Computational Biology/methods ; Early Diagnosis ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/metabolism ; Epilepsies, Myoclonic/physiopathology ; Female ; Gene Expression ; HEK293 Cells ; Humans ; Ion Transport ; Male ; NAV1.1 Voltage-Gated Sodium Channel/chemistry ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; Patch-Clamp Techniques ; Precision Medicine ; Prognosis ; Severity of Illness Index ; Structural Homology, Protein ; Transfection
Czasopismo naukowe

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