arginine and Familial Hypokalemic Periodic Paralysis

arginine has been researched along with Familial Hypokalemic Periodic Paralysis in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (6.67)18.2507
2000's11 (73.33)29.6817
2010's3 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Durran, S; Hanna, MG; Kullmann, DM; Männikkö, R; Matthews, E; Sampedro-Castañeda, M; Schorge, S; Sud, R; Suetterlin, K; Tan, SV; Thor, MG; Vivekanandam, V1
Cannon, SC; Mi, W; Wu, F1
Cannon, SC; Francis, D; Markin, VS; Struyk, AF1
Cannon, SC1
Kil, TH; Kim, JB1
Cheah, JS; Lui, KF; Ng, WY; Thai, AC1
Ikeda, Y; Kawamura, S; Seki, K; Tomita, K; Watanabe, N1
Cho, KH; Kim, BC; Kim, JH; Kim, MK; Kim, SM; Lee, MC; Lee, SH; Park, MS1
Hur, JK; Kim, JB; Lee, KY1
Du, R; Ke, T; Li, W; Liao, Y; Liu, M; Liu, P; Ren, X; Tang, Z; Wang, Q; Wang, X; Wu, X; Xu, C; Yang, J; Zhang, X; Zhu, J1
Carle, T; Devuyst, O; Fontaine, B; Lhuillier, L; Luce, S; Sternberg, D; Tabti, N1
Adjagba, M; Adjien, C; Avode, DG; Darboux, RB; Funalot, B; Hilbert, P; Houinato, D; Laleye, A; Sternberg, D; Vallat, JM1
Bulman, DE; Ebers, GC; Hahn, AF; Nicolle, MW; Scoggan, KA; Tollar, LL; van Oene, MD1
Adachi, Y; Kumada, H; Kusumi, M; Nakashima, K1
Hang, C; Jurkat-Rott, K; Kuzmenkin, A; Lehmann-Horn, F; Lerche, H; Mitrovic, N; Muncan, V1

Other Studies

15 other study(ies) available for arginine and Familial Hypokalemic Periodic Paralysis

ArticleYear
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
    Scientific reports, 2019, 11-26, Volume: 9, Issue:1

    Topics: Adolescent; Arginine; Chloride Channels; HEK293 Cells; High-Throughput Nucleotide Sequencing; Humans; Hypokalemic Periodic Paralysis; Male; Mutation; Myotonia; NAV1.4 Voltage-Gated Sodium Channel

2019
Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.
    Brain : a journal of neurology, 2013, Volume: 136, Issue:Pt 12

    Topics: Acetazolamide; Animals; Arginine; Bumetanide; Calcium Channels, L-Type; Carbonic Anhydrase Inhibitors; Disease Models, Animal; Evoked Potentials, Motor; Furosemide; Glucose; Histidine; Hypokalemic Periodic Paralysis; In Vitro Techniques; Isometric Contraction; Male; Mice; Mice, Transgenic; Muscle, Skeletal; Mutation; Sodium Potassium Chloride Symporter Inhibitors

2013
Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.
    The Journal of general physiology, 2008, Volume: 132, Issue:4

    Topics: Amino Acid Substitution; Animals; Arginine; Binding Sites; Electric Conductivity; Hypokalemic Periodic Paralysis; Ion Channel Gating; Ion Transport; Membrane Potentials; Models, Molecular; Muscle Proteins; Muscle, Skeletal; Mutant Proteins; Patch-Clamp Techniques; Potassium; Protons; Rats; Sodium; Sodium Channels

2008
Getting a charge out of periodic paralysis?
    Neurology, 2009, May-05, Volume: 72, Issue:18

    Topics: Arginine; Calcium Channels; Calcium Channels, L-Type; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Testing; Humans; Hypokalemic Periodic Paralysis; Ion Channel Gating; Membrane Potentials; Muscle, Skeletal; Mutation; NAV1.4 Voltage-Gated Sodium Channel; Sodium Channels

2009
Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2010, Volume: 14, Issue:3

    Topics: Adolescent; Amiloride; Amino Acid Substitution; Arginine; Calcium Channels; Calcium Channels, L-Type; Cold Temperature; DNA Mutational Analysis; Genotype; Glycine; Humans; Hypokalemic Periodic Paralysis; Male; Mutation; Potassium; Respiratory Insufficiency; Spironolactone

2010
Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis.
    Thyroid : official journal of the American Thyroid Association, 2004, Volume: 14, Issue:3

    Topics: Adult; Arginine; Calcium Channels; Calcium Channels, L-Type; Case-Control Studies; Female; Glycine; Histidine; Humans; Hyperthyroidism; Hypokalemic Periodic Paralysis; Male; Middle Aged; Mutation; NAV1.4 Voltage-Gated Sodium Channel; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Sodium Channels; Thyrotoxicosis

2004
A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women.
    Internal medicine (Tokyo, Japan), 2004, Volume: 43, Issue:3

    Topics: Arginine; Calcium Channels; Calcium Channels, R-Type; Cation Transport Proteins; Exercise; Histamine; Humans; Hypokalemic Periodic Paralysis; Male; Mutation, Missense; Pedigree; Penetrance; Potassium

2004
Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:11

    Topics: Action Potentials; Age of Onset; Arginine; Calcium Channels; Cysteine; DNA Mutational Analysis; Exons; Family Health; Female; Heterozygote; Humans; Hypokalemic Periodic Paralysis; Korea; Male; Muscle, Skeletal; Mutation; NAV1.4 Voltage-Gated Sodium Channel; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Sodium Channels

2004
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
    Journal of Korean medical science, 2005, Volume: 20, Issue:1

    Topics: Acetazolamide; Adolescent; Arginine; Calcium Channels; Calcium Channels, L-Type; Codon; Exons; Family Health; Female; Glycine; Humans; Hypokalemia; Hypokalemic Periodic Paralysis; Korea; Male; Muscle, Skeletal; Mutation; Pedigree; Protein Structure, Tertiary; Sequence Analysis, DNA; Spironolactone

2005
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
    Journal of molecular medicine (Berlin, Germany), 2005, Volume: 83, Issue:3

    Topics: Adolescent; Adult; Age of Onset; Amino Acid Sequence; Animals; Arginine; Asian People; Base Sequence; Calcium Channels; Calcium Channels, L-Type; Child, Preschool; China; Female; Humans; Hypokalemic Periodic Paralysis; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Sequence Alignment

2005
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
    Biochemical and biophysical research communications, 2006, Sep-22, Volume: 348, Issue:2

    Topics: Adult; Amino Acid Sequence; Arginine; Glutamine; Humans; Hypokalemic Periodic Paralysis; Ion Channel Gating; Male; NAV1.4 Voltage-Gated Sodium Channel; Pedigree; Point Mutation; Sodium Channels

2006
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
    Neuromuscular disorders : NMD, 2007, Volume: 17, Issue:5

    Topics: Adolescent; Adult; Africa; Arginine; Calcium Channels; DNA Mutational Analysis; Family Health; Female; Histidine; Humans; Hypokalemic Periodic Paralysis; Male; Microscopy, Electron, Transmission; Middle Aged; Muscle, Skeletal; Mutation

2007
A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
    Neurology, 1999, Dec-10, Volume: 53, Issue:9

    Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Arginine; Electromyography; Histidine; Humans; Hypokalemic Periodic Paralysis; Male; Molecular Sequence Data; NAV1.4 Voltage-Gated Sodium Channel; Pedigree; Phenotype; Polymorphism, Single-Stranded Conformational; Sodium Channels

1999
Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.
    Psychiatry and clinical neurosciences, 2001, Volume: 55, Issue:5

    Topics: Adult; Amino Acid Substitution; Arginine; Calcium Channels; Calcium Channels, L-Type; Child; Codon; Female; Histidine; Humans; Hypokalemic Periodic Paralysis; Male; Muscle Weakness; Pedigree; Point Mutation

2001
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.
    Brain : a journal of neurology, 2002, Volume: 125, Issue:Pt 4

    Topics: Arginine; Cells, Cultured; Glycine; Histidine; Humans; Hydrogen-Ion Concentration; Hypokalemic Periodic Paralysis; Membrane Potentials; Muscle, Skeletal; Mutation; NAV1.4 Voltage-Gated Sodium Channel; Potassium; Sodium Channels

2002