The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation

Journal of Neuroscience

Volumn 20, Issue 23, 2000, Pages 8610-8617

  Struyk, A F ^a   Scoggan, K A ^a   Bulman, D E ^a   Cannon, S C ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Depolarization; Hypokalemic periodic paralysis; Inactivation; Mutation; Na channel; Skeletal muscle

Indexed keywords

CALCIUM CHANNEL L TYPE; SODIUM CHANNEL;

ARTICLE; CHANNEL GATING; CONTROLLED STUDY; DEPOLARIZATION; EMBRYO; GENE MUTATION; HUMAN; HUMAN CELL; HYPERPOLARIZATION; HYPOKALEMIC PERIODIC PARALYSIS; MEMBRANE CURRENT; MISSENSE MUTATION; PRIORITY JOURNAL; REPOLARIZATION; SKELETAL MUSCLE;

EID: 0034554770     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.20-23-08610.2000     Document Type: Article

References (37)

1. Slow changes in currents through sodium channels in frog muscle membrane
2. Activation and inactivation of the voltage-gated sodium channel role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation
3. A novel sodium channel mutation in a family with hypokalemic periodic paralysis
4. Ion channel defects in the hereditary myotonias and periodic paralyses
5. Spectrum of sodium channel disturbances in the non-dystrophic myotonias and periodic paralyses
6. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels
7. + channel fast inactivation
8. Sodium channel mutations in paramyotonia congenita uncouple nactivation from activation
9. Slow changes in membrane permeability and long-lasting action potentials in axons perfused with fluorine solutions
10. A unique role for the S4 segment of domain 4 in the inactivation of sodium channels
11. Impaired slow inactivation in mutant sodium channels
12. Interaction between fast and slow inactivation in SkM1 sodium channels
13. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
14. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel
15. Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states
16. Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
17. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis
18. Defective slow inactivation of sodium channels contributes to familial periodic paralysis
19. A calcium channel mutation causing hypokalemic periodic paralysis
20. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
21. Visual identification of individual transfected cells for electrophysiology using antibody-coated beads
22. Sodium channel inactivation is altered by substitution of voltage sensor positive charges
23. Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells
24. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain
25. Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment
26. Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type C a2+ channel expressed in Xenopus laevis oocytes
27. Gating of the L-type Ca channel in human skeletal myotubes: An activation defect caused by the hypokalemic periodic paralysis mutation R528H
28. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
29. Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters
30. Slow inactivation of the sodium conductance in squid giant axons. Pronase resistance
31. Slow Na+ channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis
32. Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current
33. Slow sodium channel inactivation in mammalian muscle: A possible role in regulating excitability
34. Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes
35. Insulin modulation of ATP-sensitive K+ channel of rat skeletal muscle is impaired in the hypokalaemic state
36. + channels
37. A mutation in segment I-S6 alters slow inactivation of sodium channels