Temat: "NAV1.1 Voltage-Gated Sodium Channel" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
Autorzy:: Witkowski G; First Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.; Military Institute of Aviation Medicine, Krasinskiego 54/56, 01-755 Warsaw, Poland.
Szulczyk B; Chair and Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, The Medical University of Warsaw, Banacha 1b, 02-097 Warsaw, Poland.
Nurowska E; Chair and Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, The Medical University of Warsaw, Banacha 1b, 02-097 Warsaw, Poland.
Jurek M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Pasierski M; Chair and Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, The Medical University of Warsaw, Banacha 1b, 02-097 Warsaw, Poland.
Lipiec A; Clinic of Pediatric Neurology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Charzewska A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Milewski M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Owsiak S; First Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.
Rola R; Military Institute of Aviation Medicine, Krasinskiego 54/56, 01-755 Warsaw, Poland.
Sienkiewicz Jarosz H; First Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.
Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Miecznikowa 1, 02-096 Warsaw, Poland.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 01; Vol. 25 (3). Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:: Journal Article
MeSH Terms:: Epilepsy*/pathology
Epilepsy, Generalized*/genetics
Seizures, Febrile*
NAV1.1 Voltage-Gated Sodium Channel*/genetics
NAV1.1 Voltage-Gated Sodium Channel*/metabolism
Humans ; Mutation ; Phenotype

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Skocz do pozycji: 2.

Tytuł:: Retinal Tissue Shows Glial Changes in a Dravet Syndrome Knock-in Mouse Model.
Autorzy:: Salazar JJ; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Óptica y Optometría, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28037 Madrid, Spain.
Satriano A; Preclinical and Translational Pharmacology, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036 Rende, Italy.
Matamoros JA; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Óptica y Optometría, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28037 Madrid, Spain.
Fernández-Albarral JA; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Salobrar-García E; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Óptica y Optometría, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28037 Madrid, Spain.
López-Cuenca I; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Óptica y Optometría, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28037 Madrid, Spain.
de Hoz R; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Óptica y Optometría, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28037 Madrid, Spain.
Sánchez-Puebla L; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Ramírez JM; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Medicina, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Alonso C; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, 28031 Madrid, Spain.; Instituto Universitario de Investigación en Neuroquímica, Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad Complutense, 28040 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Satta V; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, 28031 Madrid, Spain.; Instituto Universitario de Investigación en Neuroquímica, Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad Complutense, 28040 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Hernández-Fisac I; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, 28031 Madrid, Spain.
Sagredo O; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, 28031 Madrid, Spain.; Instituto Universitario de Investigación en Neuroquímica, Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad Complutense, 28040 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Ramírez AI; Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Grupo UCM 920105, IdISSC, Universidad Complutense de Madrid, 28040 Madrid, Spain.; Facultad de Óptica y Optometría, Departamento de Inmunología, Oftalmología y ORL, Universidad Complutense de Madrid, 28037 Madrid, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 01; Vol. 24 (3). Date of Electronic Publication: 2023 Feb 01.
Typ publikacji:: Journal Article
MeSH Terms:: NAV1.1 Voltage-Gated Sodium Channel*/genetics
Epilepsies, Myoclonic*/genetics
Epilepsies, Myoclonic*/pathology
Mice ; Animals ; Retina/pathology ; Seizures/genetics ; Microglia/pathology ; Disease Models, Animal

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Skocz do pozycji: 3.

Tytuł:: Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.
Autorzy:: Kearney JA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, 320 E. Superior St., Searle 8-510, Chicago, IL, 60611, USA. .
Copeland-Hardin LD; Driskill Graduate Program in Life Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Duarte S; Department of Pharmacology, Northwestern University Feinberg School of Medicine, 320 E. Superior St., Searle 8-510, Chicago, IL, 60611, USA.
Zachwieja NA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, 320 E. Superior St., Searle 8-510, Chicago, IL, 60611, USA.
Eckart-Frank IK; Department of Pharmacology, Northwestern University Feinberg School of Medicine, 320 E. Superior St., Searle 8-510, Chicago, IL, 60611, USA.
Hawkins NA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, 320 E. Superior St., Searle 8-510, Chicago, IL, 60611, USA.; Pokaż więcej
Źródło:: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2022 Dec; Vol. 33 (4), pp. 565-574. Date of Electronic Publication: 2022 May 23.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: NAV1.1 Voltage-Gated Sodium Channel*/genetics
Epilepsies, Myoclonic*/genetics
Epilepsies, Myoclonic*/pathology
Humans ; Mice ; Animals ; Chromosomes, Human, Pair 11 ; Mice, Inbred C57BL ; Mutation ; Genetic Association Studies
SCR Disease Name:: CDKL5 deficiency disorder

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Skocz do pozycji: 4.

Tytuł:: Switching from zonisamide to perampanel improved the frequency of seizures caused by hyperthermia in Dravet syndrome: a case report.
Autorzy:: Horiuchi K; Department of Neurology, Hakodate Municipal Hospital, 1-10-1, Minato-Cho, Hakodate, Japan. .
Kudo A; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita15, Nishi7, Kita-Ku, Sapporo, Hokkaido, 060-8638, Japan.
Nakamura S; Department of Neurology, Hakodate Municipal Hospital, 1-10-1, Minato-Cho, Hakodate, Japan.
Yamada K; Department of Neurology, Hakodate Municipal Hospital, 1-10-1, Minato-Cho, Hakodate, Japan.
Inoue T; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita15, Nishi7, Kita-Ku, Sapporo, Hokkaido, 060-8638, Japan.
Fujii S; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita15, Nishi7, Kita-Ku, Sapporo, Hokkaido, 060-8638, Japan.
Oshima Y; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita15, Nishi7, Kita-Ku, Sapporo, Hokkaido, 060-8638, Japan.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2024 Jan 03; Vol. 18 (1), pp. 3. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Epilepsies, Myoclonic*/complications
Epilepsies, Myoclonic*/drug therapy
Epilepsies, Myoclonic*/genetics
Hyperthermia, Induced*
Male ; Humans ; Young Adult ; Adult ; Zonisamide/therapeutic use ; Seizures/drug therapy ; Seizures/etiology ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Valproic Acid/therapeutic use ; Hyperthermia/drug therapy ; Anticonvulsants/therapeutic use

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Skocz do pozycji: 5.

Tytuł:: Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
Autorzy:: Teralı K; Department of Medical Biochemistry, Faculty of Medicine, Cyprus International University, Nicosia, Cyprus.
Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Sağer SG; Department of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Turkey.
Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.; Pokaż więcej
Źródło:: Clinical and translational science [Clin Transl Sci] 2024 Jan; Vol. 17 (1), pp. e13679. Date of Electronic Publication: 2023 Dec 06.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsies, Myoclonic*/genetics
Epileptic Syndromes*/genetics
Epilepsy*/genetics
Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Phenotype ; Mutation, Missense ; Mutation

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Skocz do pozycji: 6.

Tytuł:: Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study.
Autorzy:: Ghazala E; Department of Pediatrics, Mansoura University Faculty of Medicine, Mansoura, Egypt.
Shahin DA; Department of Clinical Pathology (Hematology), Mansoura University Faculty of Medicine, Mansoura, Egypt.
Wahba Y; Department of Pediatrics, Mansoura University Faculty of Medicine, Mansoura, Egypt. .; Pokaż więcej
Źródło:: Italian journal of pediatrics [Ital J Pediatr] 2022 Sep 02; Vol. 48 (1), pp. 157. Date of Electronic Publication: 2022 Sep 02.
Typ publikacji:: Journal Article; Observational Study
MeSH Terms:: Epilepsy*/drug therapy
Epilepsy*/genetics
NAV1.1 Voltage-Gated Sodium Channel*/genetics
Adolescent ; Anticonvulsants/therapeutic use ; Carbamazepine/therapeutic use ; Case-Control Studies ; Child ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Seizures/drug therapy ; Sodium

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Skocz do pozycji: 7.

Tytuł:: Depressed glutamate transporter 1 expression in a mouse model of Dravet syndrome.
Autorzy:: Hameed MQ; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hui B; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Lin R; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
MacMullin PC; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Pascual-Leone A; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Vermudez SAD; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Rotenberg A; Neuromodulation Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Sep; Vol. 10 (9), pp. 1695-1699. Date of Electronic Publication: 2023 Jul 14.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsies, Myoclonic*/genetics
Epilepsy*
Excitatory Amino Acid Transporter 2*/genetics
Excitatory Amino Acid Transporter 2*/metabolism
Animals ; Humans ; Mice ; Amino Acid Transport System X-AG ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Seizures

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Skocz do pozycji: 8.

Tytuł:: Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A .
Autorzy:: Weuring WJ; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, The Netherlands.
Hoekman JW; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, The Netherlands.
Braun KPJ; Department of Neurology & Neurosurgery, University Medical Centre Utrecht, 3584 Utrecht, The Netherlands.
Koeleman BPC; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, The Netherlands.; Pokaż więcej
Źródło:: Cells [Cells] 2022 Jan 28; Vol. 11 (3). Date of Electronic Publication: 2022 Jan 28.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsies, Myoclonic*/genetics
NAV1.1 Voltage-Gated Sodium Channel*/genetics
NAV1.1 Voltage-Gated Sodium Channel*/metabolism
Zebrafish*/genetics
Zebrafish*/metabolism
Zebrafish Proteins*/genetics
Zebrafish Proteins*/metabolism
Animals ; Disease Models, Animal ; Humans

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Skocz do pozycji: 9.

Tytuł:: Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine.
Autorzy:: Lemaire L; Inria Sophia Antipolis Méditerranée Research Centre, MathNeuro Team, Valbonne-Sophia Antipolis, France.; Université Côte d'Azur, Nice, France.
Desroches M; Inria Sophia Antipolis Méditerranée Research Centre, MathNeuro Team, Valbonne-Sophia Antipolis, France.; Université Côte d'Azur, Nice, France.
Krupa M; Inria Sophia Antipolis Méditerranée Research Centre, MathNeuro Team, Valbonne-Sophia Antipolis, France.; Université Côte d'Azur, Laboratoire Jean-Alexandre Dieudonné, Nice, France.
Pizzamiglio L; Université Côte d'Azur, Institute of Molecular and Cellular Pharmacology (IPMC), Valbonne-Sophia Antipolis, France.; CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Valbonne-Sophia Antipolis, France.
Scalmani P; U.O. VII Clinical and Experimental Epileptology, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
Mantegazza M; Université Côte d'Azur, Institute of Molecular and Cellular Pharmacology (IPMC), Valbonne-Sophia Antipolis, France.; CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), Valbonne-Sophia Antipolis, France.; Inserm, Valbonne-Sophia Antipolis, France.; Pokaż więcej
Źródło:: PLoS computational biology [PLoS Comput Biol] 2021 Jul 27; Vol. 17 (7), pp. e1009239. Date of Electronic Publication: 2021 Jul 27 (Print Publication: 2021).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Models, Neurological*
Mutation*
Epilepsy/*genetics
Migraine Disorders/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Action Potentials/physiology ; Animals ; Computational Biology ; Cortical Spreading Depression/physiology ; Disease Models, Animal ; Epilepsy/physiopathology ; Female ; GABAergic Neurons/physiology ; Gain of Function Mutation ; Humans ; Interneurons/physiology ; Ion Channel Gating/physiology ; Loss of Function Mutation ; Male ; Mathematical Concepts ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Migraine Disorders/physiopathology ; NAV1.1 Voltage-Gated Sodium Channel/deficiency ; NAV1.1 Voltage-Gated Sodium Channel/physiology ; Patch-Clamp Techniques ; Pyramidal Cells/physiology ; Somatosensory Cortex/physiopathology ; Voltage-Gated Sodium Channel beta-1 Subunit/deficiency ; Voltage-Gated Sodium Channel beta-1 Subunit/genetics ; Voltage-Gated Sodium Channel beta-1 Subunit/physiology
SCR Disease Name:: Migraine, Familial Hemiplegic, 3

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Skocz do pozycji: 10.

Tytuł:: Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Autorzy:: Dirkx N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. .; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. .
Weuring WJ; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands. .
De Vriendt E; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Smal N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
van de Vondervoort J; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
van 't Slot R; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
Koetsier M; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
Zonnekein N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
De Pooter T; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Koeleman BPC; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Pokaż więcej
Źródło:: BMC biology [BMC Biol] 2023 Jul 13; Vol. 21 (1), pp. 156. Date of Electronic Publication: 2023 Jul 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: CRISPR-Cas Systems*
RNA, Small Untranslated*
Animals ; Humans ; HEK293 Cells ; Peptide Elongation Factor 1/genetics ; Plasmids/genetics ; KCNQ2 Potassium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel/genetics

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Skocz do pozycji: 11.

Tytuł:: The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
Autorzy:: Zayat V; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Kuczynska Z; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Liput M; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Metin E; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Rzonca-Niewczas S; Medical Genetics Department, Institute of Mother and Child, 01-211 Warsaw, Poland.
Smyk M; Medical Genetics Department, Institute of Mother and Child, 01-211 Warsaw, Poland.
Mazurczak T; Medical Genetics Department, Institute of Mother and Child, 01-211 Warsaw, Poland.
Goszczanska-Ciuchta A; Medical Genetics Department, Institute of Mother and Child, 01-211 Warsaw, Poland.
Leszczynski P; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.
Hoffman-Zacharska D; Medical Genetics Department, Institute of Mother and Child, 01-211 Warsaw, Poland.; Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, 02-106 Warsaw, Poland.
Buzanska L; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02-106 Warsaw, Poland.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Jan 16; Vol. 12 (2). Date of Electronic Publication: 2023 Jan 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Epilepsies, Myoclonic*/genetics
Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; Neurons/metabolism ; Prosencephalon/metabolism

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Skocz do pozycji: 12.

Tytuł:: NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.
Autorzy:: Weuring WJ; Department of Genetics, Center for Molecular Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Singh S; Department of Genetics, Center for Molecular Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Volkers L; Department of Cardiology, Laboratory of Experimental Cardiology, University Medical Centre Leiden, Leiden, the Netherlands.
Rook MB; Department of Medical Physiology, University Medical Centre Utrecht, Utrecht, the Netherlands.
van 't Slot RH; Department of Genetics, Center for Molecular Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Bosma M; Department of Genetics, Center for Molecular Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Inserra M; Centre for Pain Research & School of Pharmacy, University of Queensland, Brisbane, Australia.
Vetter I; Centre for Pain Research & School of Pharmacy, University of Queensland, Brisbane, Australia.
Verhoeven-Duif NM; Department of Genetics, Center for Molecular Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Braun KPJ; Department of Neurology, University Medical Centre Utrecht, Utrecht, the Netherlands.
Rivara M; Food and Drug Department, University of Parma, Parma, Italy.
Koeleman BPC; Department of Genetics, Center for Molecular Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2020 Mar 05; Vol. 15 (3), pp. e0219106. Date of Electronic Publication: 2020 Mar 05 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsies, Myoclonic/*pathology
NAV1.1 Voltage-Gated Sodium Channel/*metabolism
NAV1.6 Voltage-Gated Sodium Channel/*metabolism
Zebrafish Proteins/*metabolism
Animals ; Anticonvulsants/pharmacology ; Disease Models, Animal ; Epilepsies, Myoclonic/metabolism ; Humans ; Locomotion/drug effects ; Morpholinos/metabolism ; Mutagenesis ; NAV1.1 Voltage-Gated Sodium Channel/chemistry ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.6 Voltage-Gated Sodium Channel/chemistry ; NAV1.6 Voltage-Gated Sodium Channel/genetics ; Neurons/drug effects ; Neurons/metabolism ; Pentylenetetrazole/pharmacology ; Phenotype ; RNA, Guide, CRISPR-Cas Systems/metabolism ; RNA, Messenger/metabolism ; Voltage-Gated Sodium Channel Agonists/pharmacology ; Voltage-Gated Sodium Channel Blockers/pharmacology ; Zebrafish ; Zebrafish Proteins/chemistry ; Zebrafish Proteins/genetics ; gamma-Aminobutyric Acid/metabolism

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Skocz do pozycji: 13.

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. .; Pokaż więcej
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

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Skocz do pozycji: 14.

Tytuł:: Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome.
Autorzy:: Anderson LL; Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.; Faculty of Medicine and Health, Discipline of Pharmacology, Sydney Pharmacy School, The University of Sydney, Sydney, NSW, Australia.; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, NSW, Australia.
Bahceci DA; Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.; Faculty of Medicine and Health, Discipline of Pharmacology, Sydney Pharmacy School, The University of Sydney, Sydney, NSW, Australia.; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, NSW, Australia.
Hawkins NA; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Evanston, IL, United States of America.
Everett-Morgan D; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, NSW, Australia.
Banister SD; Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, NSW, Australia.; Faculty of Science, School of Chemistry, The University of Sydney, Sydney, NSW, Australia.
Kearney JA; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Evanston, IL, United States of America.
Arnold JC; Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.; Faculty of Medicine and Health, Discipline of Pharmacology, Sydney Pharmacy School, The University of Sydney, Sydney, NSW, Australia.; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, NSW, Australia.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2023 Jan 26; Vol. 18 (1), pp. e0280842. Date of Electronic Publication: 2023 Jan 26 (Print Publication: 2023).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsies, Myoclonic*/drug therapy
Epilepsies, Myoclonic*/genetics
Epilepsies, Myoclonic*/metabolism
Cannabidiol*/pharmacology
Cannabidiol*/therapeutic use
Seizures, Febrile*/drug therapy
Seizures, Febrile*/genetics
Hyperthermia, Induced*
Mice ; Animals ; Anticonvulsants/pharmacology ; Anticonvulsants/therapeutic use ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Mice, Inbred C57BL ; Seizures/drug therapy ; Seizures/genetics ; Receptors, Cannabinoid/metabolism

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Skocz do pozycji: 15.

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.; Pokaż więcej
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 People/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

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Skocz do pozycji: 16.

Tytuł:: A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Autorzy:: Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Martucci L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Roberti MC; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Dentici ML; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Oct 26; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 26.
Typ publikacji:: Case Reports
MeSH Terms:: Chromosome Aberrations*
Brain Diseases*
Humans ; Karyotyping ; Translocation, Genetic ; Chromosome Inversion ; Karyotype ; Genomics ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel

Raport

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Skocz do pozycji: 17.

Tytuł:: De novo Y1460C missense variant in Na V 1.1 impedes the pore region and results in epileptic encephalopathy.
Autorzy:: Plumereau Q; CERVO Brain Research Center, 2601, de la Canardière, Quebec City, QC, G1J 2G3, Canada.
Ebdalla A; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Poulin H; CERVO Brain Research Center, 2601, de la Canardière, Quebec City, QC, G1J 2G3, Canada.
Appendino JP; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Scantlebury MH; Neurology Section, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Au PYB; Neurology Section, Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Chahine M; CERVO Brain Research Center, 2601, de la Canardière, Quebec City, QC, G1J 2G3, Canada. .; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Oct 13; Vol. 12 (1), pp. 17182. Date of Electronic Publication: 2022 Oct 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsy*/genetics
Epilepsy, Generalized*
Action Potentials/physiology ; HEK293 Cells ; Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.6 Voltage-Gated Sodium Channel/genetics ; NAV1.6 Voltage-Gated Sodium Channel/metabolism ; Patch-Clamp Techniques ; Seizures ; gamma-Aminobutyric Acid

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Skocz do pozycji: 18.

Tytuł:: Concise Review: Stem Cell Models of SCN1A -Related Encephalopathies-Current Perspective and Future Therapies.
Autorzy:: Zayat V; Department of Stem Cell Bioengineering, Mossakowski Medical Research Institute, Polish Academy of Sciences, 02106 Warsaw, Poland.
Szlendak R; Medical Genetics Department, Institute of Mother and Child, 01211 Warsaw, Poland.
Hoffman-Zacharska D; Medical Genetics Department, Institute of Mother and Child, 01211 Warsaw, Poland.; Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, 02106 Warsaw, Poland.; Pokaż więcej
Źródło:: Cells [Cells] 2022 Oct 04; Vol. 11 (19). Date of Electronic Publication: 2022 Oct 04.
Typ publikacji:: Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:: Brain Diseases*/genetics
Brain Diseases*/therapy
Epilepsies, Myoclonic*/genetics
Epilepsies, Myoclonic*/therapy
Induced Pluripotent Stem Cells*
Seizures, Febrile*/genetics
Animals ; NAV1.1 Voltage-Gated Sodium Channel/genetics

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Skocz do pozycji: 19.

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.; Pokaż więcej
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

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Skocz do pozycji: 20.

Tytuł:: The Effect of Ca , Lobe-Specificity, and CaMKII on CaM Binding to Na V 1.1.
Autorzy:: Li J; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .
Yu Z; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA. .
Xu J; Department of Physiology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890-8544, Japan. .
Feng R; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .
Gao Q; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .; Department of Physiology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890-8544, Japan. .
Boczek T; Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, CA 94305, USA. .
Liu J; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. m18602444860_.
Li Z; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .
Wang Q; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .
Lei M; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .
Gong J; Department of Clinical Pharmacy, School of Life Science and Biopharmaceutics, Shenyang Pharmaceutical University, Shenyang 110016, China. .
Hu H; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .
Minobe E; Department of Physiology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890-8544, Japan. .
Ji HL; Department of Cellular and Molecular Biology, University of Texas Health Science Center at Tyler, Tyler, TX 75708, USA. .
Kameyama M; Department of Physiology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890-8544, Japan. .
Guo F; Department of Pharmaceutical Toxicology, School of Pharmacy, China Medical University, Shenyang 110122, China. .; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2018 Aug 23; Vol. 19 (9). Date of Electronic Publication: 2018 Aug 23.
Typ publikacji:: Journal Article
MeSH Terms:: Calcium/*chemistry
Calcium-Calmodulin-Dependent Protein Kinase Type 2/*chemistry
Calmodulin/*chemistry
NAV1.1 Voltage-Gated Sodium Channel/*chemistry
Amino Acid Sequence ; Binding Sites ; Calcium/metabolism ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/genetics ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/metabolism ; Calmodulin/genetics ; Calmodulin/metabolism ; Cloning, Molecular ; Crystallography, X-Ray ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Gene Expression ; Genetic Vectors/chemistry ; Genetic Vectors/metabolism ; Glutathione Transferase/chemistry ; Glutathione Transferase/genetics ; Glutathione Transferase/metabolism ; HEK293 Cells ; Humans ; Kinetics ; Molecular Docking Simulation ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.1 Voltage-Gated Sodium Channel/metabolism ; Phosphorylation ; Protein Binding ; Protein Conformation, alpha-Helical ; Protein Conformation, beta-Strand ; Protein Interaction Domains and Motifs ; Recombinant Fusion Proteins/chemistry ; Recombinant Fusion Proteins/genetics ; Recombinant Fusion Proteins/metabolism ; Thermodynamics

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