Sodium channel gene defects in the periodic paralyses
Data up to Jan 2025
Total Citations Per Year
Abstract
References (41)
Primary structure of the receptor for calcium channel blockers from skeletal muscle
1987 • 1,359 citations
Structural parts involved in activation and inactivation of the sodium channel
1989 • 1,189 citations
Determination of the subunit stoichiometry of a voltage-activated potassium channel
1991 • 925 citations
Calcium channel characteristics conferred on the sodium channel by single mutations
1992 • 776 citations
Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel
1992 • 708 citations
Sequence of a Probable Potassium Channel Component Encoded at Shaker Locus of Drosophila
1987 • 645 citations
Primary structure and functional expression of a mammalian skeletal muscle sodium channel
1989 • 561 citations
Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence
1991 • 507 citations
Mapping the site of block by tetrodotoxin and saxitoxin of sodium channel II
1991 • 460 citations
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
1991 • 382 citations
A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis
1991 • 312 citations
Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene
1990 • 304 citations
Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle
1990 • 297 citations
Voltage-sensitive ion channels
1989 • 265 citations
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
1992 • 240 citations
Adynamia episodica hereditaria with myotonia: A non‐inactivating sodium current and the effect of extracellular pH
1987 • 234 citations
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
1992 • 219 citations
A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivation
1991 • 213 citations
Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel
1992 • 181 citations
Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters
1984 • 178 citations
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.
1991 • 140 citations
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene
1991 • 106 citations
Differences between the deep pores of K+ channels determined by an interacting pair of nonpolar amino acids
1992 • 104 citations
Membrane defects in paramyotonia congenita (eulenburg)
1987 • 104 citations
The voltage-sensitive sodium channel from rabbit skeletal muscle. Chemical characterization of subunits.
1987 • 96 citations
Molecular Diversity of Voltage-Sensitive Na Channels
1989 • 96 citations
Changes in Sodium Channel Gating Produced by Point Mutations in a Cytoplasmic Linker
1990 • 93 citations
Kinetic properties of single sodium channels in rat heart and rat brain.
1989 • 90 citations
TTX-sensitive and TTX-insensitive sodium channel mRNA transcripts are independently regulated in adult skeletal muscle after denervation
1991 • 86 citations
Structure-Function Studies of Voltage-Gated Ion Channels
1991 • 71 citations
Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.
1991 • 69 citations
Linkage of atypical myotonia congenita to a sodium channel locus
1992 • 61 citations
Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3
1991 • 57 citations
HYPOKALÆMIC PERIODIC PARALYSIS STUDIED IN VITRO
1970 • 57 citations
The Periodic Paralyses
1988 • 40 citations
Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.
1991 • 38 citations
Voltage-dependent sodium channels.
1993 • 38 citations
The primary periodic paralyses
1985 • 27 citations
Paramyotonia congenita : (Eulenburg)
1970 • 24 citations
Paramyotonia congenita (Eulenburg)
1971 • 15 citations
RFLP for BgIII at the human skeletal muscle sodium channel locus
1991 • 4 citations