المؤلفون: Tikhonova TB; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia., Sharkov AA; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University, Moscow, Russia.; Genomed Ltd., Moscow, Russia., Zhorov BS; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.; Sechenov Institute of Evolutionary Physiology & Biochemistry, Russian Academy of Sciences, St. Petersburg, Russia.; Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, Canada., Vassilevski AA; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia.; Moscow Institute of Physics and Technology, State University, Dolgoprudny, Russia.

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 Aug 31; Vol. 38 (16), pp. e23883.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

مواضيع طبية MeSH: NAV1.4 Voltage-Gated Sodium Channel*/genetics , NAV1.4 Voltage-Gated Sodium Channel*/metabolism , Myotonia*/genetics, Humans ; Animals ; Female ; Xenopus laevis ; Male ; Mutation ; Oocytes/metabolism ; Adult ; Amino Acid Substitution

المؤلفون: Talarico M; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy., Fortunato F; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy., Labalme A; Genetics Department, Hospices Civils de Lyon, Lyon, France., Januel L; Genetics Department, Hospices Civils de Lyon, Lyon, France., Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France., Sanlaville D; Genetics Department, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France., Sammarra I; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy., Gagliardi M; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Procopio R; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy., Valentino P; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy., Annesi G; Institute for Biomedical Research and Innovation, National Research Council, Cosenza, Italy., Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France., Gambardella A; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy.; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.

المصدر: Epilepsia open [Epilepsia Open] 2024 Jun; Vol. 9 (3), pp. 951-959. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

مواضيع طبية MeSH: Electroencephalography* , Epilepsy, Generalized*/genetics , NAV1.4 Voltage-Gated Sodium Channel*/genetics , Pedigree*, Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Italy ; Myotonia/genetics ; Phenotype

SCR Disease Name: Epilepsy, Idiopathic Generalized

المؤلفون: Bodawatta KH; Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark., Hu H; Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark., Schalk F; Chemical Biology of Microbe-Host Interactions, Leibniz Institute for Natural Product Research and Infection Biology e. V., Hans-Knöll-Institute, Jena, Germany., Daniel JM; Chemical Biology of Microbe-Host Interactions, Leibniz Institute for Natural Product Research and Infection Biology e. V., Hans-Knöll-Institute, Jena, Germany.; Institute for Pharmaceutical Microbiology, University of Bonn, Bonn, Germany., Maiah G; The New Guinea Binatang Research Centre, Madang, Papua New Guinea., Koane B; The New Guinea Binatang Research Centre, Madang, Papua New Guinea., Iova B; PNG National Museum and Art Gallery, Port Moresby, Papua New Guinea., Beemelmanns C; Chemical Biology of Microbe-Host Interactions, Leibniz Institute for Natural Product Research and Infection Biology e. V., Hans-Knöll-Institute, Jena, Germany.; Department Anti-infectives from Microbiota, Helmholtz-Institute for Pharmaceutical Research Saarland (HIPS), Helmholtz Centre for Infection Research (HZI), Saarbrücken, Germany.; Universität des Saarlandes, Saarbrücken, Germany., Poulsen M; Section for Ecology and Evolution, Department of Biology, University of Copenhagen, Copenhagen, Denmark., Jønsson KA; Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.

المصدر: Molecular ecology [Mol Ecol] 2024 May; Vol. 33 (9), pp. e16878. Date of Electronic Publication: 2023 Feb 27.

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

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9214478 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-294X (Electronic) Linking ISSN: 09621083 NLM ISO Abbreviation: Mol Ecol Subsets: MEDLINE

مواضيع طبية MeSH: Batrachotoxins*/genetics , NAV1.4 Voltage-Gated Sodium Channel*/genetics , Mutation*, Animals ; Molecular Docking Simulation ; Birds/genetics ; Selection, Genetic ; Neurotoxins/toxicity ; Neurotoxins/genetics

المؤلفون: Campanale C; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Laghetti P; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Saltarella I; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Altamura C; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy., Canioni E; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Iosa E; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Maggi L; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Brugnoni R; Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Tacconi P; Centro Regionale per la Sclerosi Multipla, Ospedale Binaghi, Cagliari, Italy., Desaphy JF; Department of Precision and Regenerative Medicine, Section of Pharmacology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.

المصدر: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (3), pp. 725-734.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

مواضيع طبية MeSH: Myotonia*/genetics , NAV1.4 Voltage-Gated Sodium Channel*/genetics , Pedigree* , Point Mutation*, Adult ; Female ; Humans ; Middle Aged ; Electromyography ; Italy ; Myotonia Congenita/genetics

SCR Disease Name: Nondystrophic myotonia

المؤلفون: Radziwonik-Fraczyk W; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Elert-Dobkowska E; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Karpinski M; Specialist Hospital John Paul II, Cracov, Poland., Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland., Ziora-Jakutowicz K; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Kubalska J; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Szczesniak D; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Stepniak I; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Zaremba J; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Sulek A; Faculty of Medicine, Lazarski University, Warsaw, Poland. anna.sulek@lazarski.pl.

المصدر: Neurogenetics [Neurogenetics] 2024 Jul; Vol. 25 (3), pp. 233-247. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing*/methods , Neuromuscular Diseases*/genetics , Neuromuscular Diseases*/diagnosis , Phenotype* , Genetic Testing*/methods , Calpain*/genetics , Chloride Channels*/genetics , Muscle Proteins*/genetics, Humans ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Mutation ; NAV1.4 Voltage-Gated Sodium Channel/genetics ; Young Adult ; Child ; Genotype ; Aged ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/diagnosis ; Myotonic Dystrophy/genetics ; Myotonic Dystrophy/diagnosis ; Child, Preschool

المؤلفون: Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo, Egypt. nesma172@yahoo.com., Ahmed HA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo, Egypt., Dawoud H; Pediatric Department, Tanta University, Gharbia, Egypt., Ashaat NA; Professor of Human Genetics, Ain Shams University, Cairo, Egypt., Azmy A; Child Health Department, Medical Research and Clinical Studies Institute, National Research Centre, Dokki, Cairo, Egypt., Galal ER; Biochemistry and Molecular Biology Department, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt., Elhusseny Y; Lecturer of Medical Biochemistry and Molecular Biology, School of Medicine, Newgiza University, Giza, Egypt., Awady HE; Pediatric Department, Fayoum University Hospitals, Fayoum, Egypt., Metwally AM; Community Medicine Research Department/Medical Research, Clinical Studies Institute/National Research Centre (Affiliation ID: 60014618), Dokki, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

المصدر: Molecular biology reports [Mol Biol Rep] 2024 Jun 15; Vol. 51 (1), pp. 766. Date of Electronic Publication: 2024 Jun 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Myotonia Congenita*/genetics , Myotonia Congenita*/diagnosis , Exome Sequencing*/methods , Chloride Channels*/genetics , Mutation*/genetics, Humans ; Female ; Male ; Egypt ; Child ; Adolescent ; Child, Preschool ; Young Adult ; Infant ; NAV1.4 Voltage-Gated Sodium Channel/genetics ; Adult ; Pedigree ; Electromyography

المؤلفون: Zaaijer S; Cornell Tech, New York, New York, USA.; Department of Nematology, University of California Riverside, Riverside, California, USA., Groen SC; Department of Nematology, University of California Riverside, Riverside, California, USA.; Department of Botany & Plant Sciences, University of California Riverside, Riverside, California, USA.; Center for Plant Cell Biology and Center for Infectious Disease and Vector Research, Institute for Integrative Genome Biology, University of California Riverside, Riverside, California, USA.

المصدر: Molecular ecology [Mol Ecol] 2024 May; Vol. 33 (9), pp. e17358. Date of Electronic Publication: 2024 Apr 16.

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

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9214478 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-294X (Electronic) Linking ISSN: 09621083 NLM ISO Abbreviation: Mol Ecol Subsets: MEDLINE

مواضيع طبية MeSH: Batrachotoxins*/genetics , Animals, Poisonous* , Songbirds*, Animals ; Neurotoxins/toxicity ; Neurotoxins/genetics ; Passeriformes/genetics ; Anura/genetics ; NAV1.4 Voltage-Gated Sodium Channel/genetics ; Amino Acid Substitution ; Poison Frogs

SCR Organism: Pitohui

المؤلفون: Zhao X; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China., Ning H; Obstetrics and Gynaecology, The Seventh Affiliated Hospital, Sun Yat-Sen University, No 628 Zhenyuan Road Guangming District, 518107, Shenzhen, PR China., Liu L; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China., Zhu C; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China., Zhang Y; The Department of Endocrinology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China., Sun G; The Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China., Ren H; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China., Kong X; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China. kxd1968@163.com.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 12; Vol. 19 (1), pp. 160. Date of Electronic Publication: 2024 Apr 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Hypokalemic Periodic Paralysis*/genetics , Muscular Dystrophies*, Humans ; Alleles ; Paralysis ; China ; NAV1.4 Voltage-Gated Sodium Channel/genetics

المؤلفون: Meng F; Tianjin Key Laboratory of Female Reproductive Health and Birth Health, Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin 300052, China. lixiaozhou@tmu.edu.cn., Shi Y, Ju D, Wang X, Dong H, Li X, Li X, Zhou X

المصدر: 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] 2024 Apr 10; Vol. 41 (4), pp. 450-455.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Abortion, Spontaneous* , Myasthenic Syndromes, Congenital*/diagnosis , Myasthenic Syndromes, Congenital*/genetics , Polyhydramnios*, Female ; Humans ; Pregnancy ; DNA Copy Number Variations ; Mutation ; NAV1.4 Voltage-Gated Sodium Channel ; Prenatal Diagnosis

المؤلفون: De Bellis M; Section of Pharmacology, Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Boccanegra B; Section of Pharmacology, Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Cerchiara AG; Section of Pharmacology, Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Imbrici P; Section of Pharmacology, Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., De Luca A; Section of Pharmacology, Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 03; Vol. 24 (1). Date of Electronic Publication: 2023 Jan 03.

نوع المنشور: Journal Article; Review

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

مواضيع طبية MeSH: Mexiletine*/pharmacology , Mexiletine*/therapeutic use , Myotonia*/drug therapy , NAV1.4 Voltage-Gated Sodium Channel*/metabolism , Voltage-Gated Sodium Channel Blockers*/pharmacology , Voltage-Gated Sodium Channel Blockers*/therapeutic use, Humans ; Muscle, Skeletal/drug effects ; Syndrome