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:: 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: 3.

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: 4.

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: 5.

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: 6.

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: 7.

Tytuł:: Rescuing epileptic and behavioral alterations in a Dravet syndrome mouse model by inhibiting eukaryotic elongation factor 2 kinase (eEF2K).
Autorzy:: Beretta S; CNR Neuroscience Institute, Milan, and NeuroMi Milan Center for Neuroscience, Via Raoul Follereau 3, 20854, Vedano al Lambro, MB, Italy.
Gritti L; CNR Neuroscience Institute, Milan, and NeuroMi Milan Center for Neuroscience, Via Raoul Follereau 3, 20854, Vedano al Lambro, MB, Italy.
Ponzoni L; CNR Neuroscience Institute, Milan, and NeuroMi Milan Center for Neuroscience, Via Raoul Follereau 3, 20854, Vedano al Lambro, MB, Italy.
Scalmani P; L'Unità Operativa Complessa di Epilettologia Clinica e Sperimentale, Foundation Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Neurological Institute Carlo Besta, 20133, Milan, Italy.
Mantegazza M; CNRS UMR 7275, Institut National de La Santé Et de La Recherche Médicale, LabEx ICST, Institute of Molecular and Cellular Pharmacology (IPMC), Université Côte d'Azur (UCA), 06560, Valbonne-Sophia Antipolis, France.
Sala M; CNR Neuroscience Institute, Milan, and NeuroMi Milan Center for Neuroscience, Via Raoul Follereau 3, 20854, Vedano al Lambro, MB, Italy.
Verpelli C; CNR Neuroscience Institute, Milan, and NeuroMi Milan Center for Neuroscience, Via Raoul Follereau 3, 20854, Vedano al Lambro, MB, Italy. .
Sala C; CNR Neuroscience Institute, Milan, and NeuroMi Milan Center for Neuroscience, Via Raoul Follereau 3, 20854, Vedano al Lambro, MB, Italy. .; Pokaż więcej
Źródło:: Molecular autism [Mol Autism] 2022 Jan 03; Vol. 13 (1), pp. 1. Date of Electronic Publication: 2022 Jan 03.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsies, Myoclonic*/genetics
Epilepsies, Myoclonic*/therapy
Epilepsy*
Animals ; Disease Models, Animal ; Elongation Factor 2 Kinase/genetics ; Epileptic Syndromes ; Mice ; Mice, Inbred C57BL ; NAV1.1 Voltage-Gated Sodium Channel/genetics
SCR Disease Name:: CDKL5 deficiency disorder

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Skocz do pozycji: 8.

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: 9.

Tytuł:: Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy.
Autorzy:: Anderson LL; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.
Heblinski M; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.
Absalom NL; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.
Hawkins NA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Bowen MT; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Psychology, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia.
Benson MJ; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Psychology, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia.
Zhang F; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Bahceci D; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.
Doohan PT; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.
Chebib M; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.
McGregor IS; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; School of Psychology, Faculty of Science, The University of Sydney, Sydney, New South Wales, Australia.
Kearney JA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Arnold JC; Lambert Initiative for Cannabinoid Therapeutics, The University of Sydney, Sydney, New South Wales, Australia.; Discipline of Pharmacology, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Pokaż więcej
Źródło:: British journal of pharmacology [Br J Pharmacol] 2021 Dec; Vol. 178 (24), pp. 4826-4841. Date of Electronic Publication: 2021 Sep 30.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Cannabidiol*/pharmacology
Cannabidiol*/therapeutic use
Cannabis*
Epilepsies, Myoclonic*/drug therapy
Epilepsy*/drug therapy
Animals ; Anticonvulsants/pharmacology ; Anticonvulsants/therapeutic use ; Benzoates ; Mice ; NAV1.1 Voltage-Gated Sodium Channel ; Receptors, Cannabinoid ; Seizures/drug therapy

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Skocz do pozycji: 10.

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: 11.

Tytuł:: Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Autorzy:: Lee J; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Lee C; Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.
Ki CS; GC Genome, Yongin, Korea.
Lee J; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1376. Date of Electronic Publication: 2020 Jul 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Loci*
Epilepsy/*genetics
Genetic Testing/*methods
High-Throughput Nucleotide Sequencing/*methods
Sequence Analysis, DNA/*methods
Cadherins/genetics ; Child, Preschool ; Epilepsy/diagnosis ; Female ; GTPase-Activating Proteins/genetics ; Genetic Testing/standards ; High-Throughput Nucleotide Sequencing/standards ; Homeodomain Proteins/genetics ; Humans ; Infant ; Infant, Newborn ; KCNQ2 Potassium Channel/genetics ; Male ; Membrane Proteins/genetics ; Munc18 Proteins/genetics ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; NAV1.6 Voltage-Gated Sodium Channel/genetics ; Nerve Tissue Proteins/genetics ; Protocadherins ; Sequence Analysis, DNA/standards ; Transcription Factors/genetics

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Skocz do pozycji: 12.

Tytuł:: Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy.
Autorzy:: Encinas AC; Graduate Program in Genetics, University of Arizona, Tucson, Arizona, United States of America.
Watkins JC; Department of Mathematics, University of Arizona, Tucson, Arizona, United States of America.
Longoria IA; Department of Mathematics, University of Arizona, Tucson, Arizona, United States of America.
Johnson JP Jr; Xenon Pharmaceuticals, Burnaby, BC, Canada.
Hammer MF; Department of Neurology, University of Arizona, Tucson, Arizona, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2020 Aug 26; Vol. 15 (8), pp. e0238121. Date of Electronic Publication: 2020 Aug 26 (Print Publication: 2020).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:: Epilepsy/*pathology
Ion Channel Gating/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
NAV1.2 Voltage-Gated Sodium Channel/*genetics
NAV1.6 Voltage-Gated Sodium Channel/*genetics
Amino Acid Substitution/genetics ; Base Sequence ; Brain/physiology ; Epilepsy/genetics ; Genetic Variation/genetics ; Humans ; Membrane Potentials/genetics ; Mutation/genetics ; Patch-Clamp Techniques ; Sequence Analysis, DNA

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Skocz do pozycji: 13.

Tytuł:: Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.
Autorzy:: Sahli M; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco. .; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco. .; Département de Génétique Médicale, Institut National d'Hygiène, 7Avenue Ibn Batouta, B.P. 769, 11400, Rabat, Morocco. .
Zrhidri A; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco.
Elaloui SC; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
Smaili W; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco.
Lyahyai J; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
Oudghiri FZ; Unité de Neuropédiatrie, Hôpital d'Enfants de Rabat, Rabat, Morocco.
Sefiani A; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2019 Aug 23; Vol. 13 (1), pp. 266. Date of Electronic Publication: 2019 Aug 23.
Typ publikacji:: Journal Article; Case Reports
MeSH Terms:: Mutation*
Epilepsy/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
NAV1.2 Voltage-Gated Sodium Channel/*genetics
Child ; Child, Preschool ; Female ; Heterozygote ; Humans ; Male ; Morocco ; Sequence Analysis, DNA ; Exome Sequencing

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Skocz do pozycji: 14.

Tytuł:: Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Autorzy:: de Lange IM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Weuring W; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
van 't Slot R; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, The Netherlands.
Sonsma ACM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
McCormack M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin 2, Ireland.
de Kovel C; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
van Gemert LJJM; Epilepsy Center Kempenhaeghe, Heeze, The Netherlands.
Mulder F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
van Kempen MJA; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Knoers NVAM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Brilstra EH; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Koeleman BPC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00727. Date of Electronic Publication: 2019 May 29.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsy/*pathology
NAV1.1 Voltage-Gated Sodium Channel/*genetics
5' Untranslated Regions ; Adolescent ; Adult ; Alleles ; Cell Line, Tumor ; Child ; Child, Preschool ; Epilepsy/genetics ; Genes, Reporter ; Genome-Wide Association Study ; Haplotypes ; Humans ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Severity of Illness Index ; Young Adult

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Skocz do pozycji: 15.

Tytuł:: De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.
Autorzy:: Henriksen MW; Department of Neurology, Vestre Viken Hospital Trust, Drammen Hospital, P.O. Box 800, 3004, Drammen, Norway. .; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, P.O. Box 1171, Blindern, 0318, Oslo, Norway. .
Ravn K; Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 København Ø, Copenhagen, Denmark.
Paus B; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, P.O. Box 1171, Blindern, 0318, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, P.O. Box 4950, 0424, Oslo, Norway.
von Tetzchner S; Department of Psychology, University of Oslo, P.O. Box 1094, Blindern, 0317, Oslo, Norway.
Skjeldal OH; Gillberg Neuropsychiatric Centre, Sahlgrenska University of Gothenburg, Kungsgatan 12, 41119, Gothenburg, Sweden.; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2018 Oct 11; Vol. 19 (1), pp. 184. Date of Electronic Publication: 2018 Oct 11.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Epilepsy/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Rett Syndrome/*genetics
Adult ; DNA Mutational Analysis ; Epilepsy/complications ; Epilepsy/diagnosis ; Epilepsy/physiopathology ; Female ; Gene Expression ; Genetic Predisposition to Disease ; Humans ; Methyl-CpG-Binding Protein 2/genetics ; Phenotype ; Rett Syndrome/complications ; Rett Syndrome/diagnosis ; Rett Syndrome/physiopathology

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Skocz do pozycji: 16.

Tytuł:: Novel and de novo mutations in pediatric refractory epilepsy.
Autorzy:: Liu J; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China.; Shandong University, Jinan, Shandong, People's Republic of China.
Tong L; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China.; Shandong University, Jinan, Shandong, People's Republic of China.
Song S; Qilu Children's hospital of Shandong University, Jinan, Shandong, People's Republic of China.
Niu Y; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China.; Shandong University, Jinan, Shandong, People's Republic of China.
Li J; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China.; Shandong University, Jinan, Shandong, People's Republic of China.
Wu X; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China.; Shandong University, Jinan, Shandong, People's Republic of China.
Zhang J; MyGenostics Inc., Beijing, People's Republic of China.
Zai CC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada.
Luo F; MyGenostics Inc., Beijing, People's Republic of China.
Wu J; MyGenostics Inc., Beijing, People's Republic of China.
Li H; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada.
Wong AHC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada.
Sun R; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China.; Shandong University, Jinan, Shandong, People's Republic of China.
Liu F; Shandong University, Jinan, Shandong, People's Republic of China.; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, University of Toronto, Toronto, ON, Canada.
Li B; Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, People's Republic of China. .; Shandong University, Jinan, Shandong, People's Republic of China. .; Pokaż więcej
Źródło:: Molecular brain [Mol Brain] 2018 Sep 05; Vol. 11 (1), pp. 48. Date of Electronic Publication: 2018 Sep 05.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsy/*genetics
Mutation/*genetics
Adolescent ; Child ; Child, Preschool ; Epilepsies, Myoclonic/genetics ; Epilepsy/diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; NAV1.1 Voltage-Gated Sodium Channel/genetics

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Skocz do pozycji: 17.

Tytuł:: Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.
Autorzy:: Prontera P; 1 Centro di Riferimento Regionale di Genetica Medica, Ospedale S Maria della Misericordia, Perugia, Italy.
Sarchielli P; 2 Clinica Neurologica, Università degli Studi di Perugia, Dipartimento di Medicina, Ospedale S Maria della Misericordia, Perugia, Italy.
Caproni S; 2 Clinica Neurologica, Università degli Studi di Perugia, Dipartimento di Medicina, Ospedale S Maria della Misericordia, Perugia, Italy.
Bedetti C; 2 Clinica Neurologica, Università degli Studi di Perugia, Dipartimento di Medicina, Ospedale S Maria della Misericordia, Perugia, Italy.
Cupini LM; 3 Centro Cefalee, UOC Neurologia, Ospedale S Eugenio, Rome, Italy.
Calabresi P; 2 Clinica Neurologica, Università degli Studi di Perugia, Dipartimento di Medicina, Ospedale S Maria della Misericordia, Perugia, Italy.; 4 IRCCS Santa Lucia Foundation, Rome, Italy.
Costa C; 2 Clinica Neurologica, Università degli Studi di Perugia, Dipartimento di Medicina, Ospedale S Maria della Misericordia, Perugia, Italy.; Pokaż więcej
Źródło:: Cephalalgia : an international journal of headache [Cephalalgia] 2018 Feb; Vol. 38 (2), pp. 361-373. Date of Electronic Publication: 2017 Jan 06.
Typ publikacji:: Journal Article; Meta-Analysis; Systematic Review
MeSH Terms:: Epilepsy/*genetics
Migraine with Aura/*genetics
Mutation/*genetics
Epilepsy/diagnosis ; Epilepsy/epidemiology ; Humans ; Migraine with Aura/diagnosis ; Migraine with Aura/epidemiology ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Sodium-Potassium-Exchanging ATPase/genetics
SCR Disease Name:: Migraine, Sporadic Hemiplegic

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Skocz do pozycji: 18.

Tytuł:: Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Autorzy:: Hammer MF; ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.; Neurology Department, University of Arizona, Tucson, AZ United States of America.
Ishii A; ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.; Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan.
Johnstone L; ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.
Tchourbanov A; ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.
Lau B; ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.
Sprissler R; ARL Division of Biotechnology, University of Arizona, Tucson, AZ, United States of America.
Hallmark B; Interdisciplinary Program in Statistics, University of Arizona, Tucson, AZ United States of America.
Zhang M; Interdisciplinary Program in Statistics, University of Arizona, Tucson, AZ United States of America.
Zhou J; College of Public Health, University of Arizona, Tucson, AZ United States of America.
Watkins J; Department of Mathematics, University of Arizona, Tucson, AZ United States of America.
Hirose S; Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2017 Jul 07; Vol. 12 (7), pp. e0180485. Date of Electronic Publication: 2017 Jul 07 (Print Publication: 2017).
Typ publikacji:: Journal Article
MeSH Terms:: Genome-Wide Association Study*
Epilepsies, Myoclonic/*genetics
Epilepsy/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Alleles ; Epilepsies, Myoclonic/physiopathology ; Epilepsy/physiopathology ; Exome/genetics ; Female ; Genes, Modifier/genetics ; Genotype ; Haploinsufficiency/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Phenotype

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Skocz do pozycji: 19.

Tytuł:: Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
Autorzy:: Hawkins NA; Department of Pharmacology Northwestern University Feinberg School of Medicine Chicago, Illinois, United States of America.
Zachwieja NJ; Department of Pharmacology Northwestern University Feinberg School of Medicine Chicago, Illinois, United States of America.
Miller AR; Department of Medicine, Vanderbilt University, Nashville, Tennessee, United States of America.
Anderson LL; Department of Pharmacology Northwestern University Feinberg School of Medicine Chicago, Illinois, United States of America.
Kearney JA; Department of Pharmacology Northwestern University Feinberg School of Medicine Chicago, Illinois, United States of America.; Department of Medicine, Vanderbilt University, Nashville, Tennessee, United States of America.; Pokaż więcej
Źródło:: PLoS genetics [PLoS Genet] 2016 Oct 21; Vol. 12 (10), pp. e1006398. Date of Electronic Publication: 2016 Oct 21 (Print Publication: 2016).
Typ publikacji:: Journal Article
MeSH Terms:: Epilepsies, Myoclonic/*genetics
Epilepsy/*genetics
Genes, Modifier/*genetics
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Receptors, GABA-A/*genetics
Animals ; Benzodiazepines/administration & dosage ; Chromosome Mapping ; Chromosomes/genetics ; Clobazam ; Disease Models, Animal ; Epilepsies, Myoclonic/drug therapy ; Epilepsies, Myoclonic/pathology ; Epilepsy/drug therapy ; Epilepsy/pathology ; Gene Expression Regulation ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Mice ; Mice, Knockout ; Mutation ; Phenotype ; Seizures/drug therapy ; Seizures/genetics ; Seizures/pathology

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Skocz do pozycji: 20.

Tytuł:: Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.
Autorzy:: Baghel R; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.
Grover S; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.; Department of Paediatrics, Division of Pneumonology-Immunology, Charité University Medical Centre, Berlin, Germany.
Kaur H; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.
Jajodia A; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.
Rawat C; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.
Srivastava A; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.
Kushwaha S; Institute of Human Behavior & Allied Sciences (IHBAS), Delhi, India.
Agarwal R; Institute of Human Behavior & Allied Sciences (IHBAS), Delhi, India.
Sharma S; Institute of Human Behavior & Allied Sciences (IHBAS), Delhi, India.
Kukreti R; Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi, India.; Pokaż więcej
Źródło:: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2016 Sep; Vol. 22 (9), pp. 740-57. Date of Electronic Publication: 2016 Jun 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epilepsy*/blood
Epilepsy*/drug therapy
Epilepsy*/genetics
Anticonvulsants/*therapeutic use
NAV1.1 Voltage-Gated Sodium Channel/*genetics
Pharmacogenomic Variants/*genetics
Phenytoin/*therapeutic use
Polymorphism, Single Nucleotide/*genetics
Receptors, GABA-A/*genetics
Adolescent ; Adult ; Child ; Female ; Humans ; India ; Male ; Young Adult

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