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Nomenclature of Voltage-Gated Sodium Channels
TLDR
The present alphabetical nomenclature does not reveal the structural relationships among the α1 subunits of Ca2+ channels, but it is apparent that these two alphabeticals will overlap at α1L, which may not mediate an L-type Ca2- current and therefore may create confusion. Expand
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation
TLDR
Analysis of single-channel data reveals that mutant channels inactivate normally from closed states, but poorly from the open state, and suggests a critical role for the S4 helix of domain 4 in coupling between activation and inactivation. Expand
Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.
TLDR
The principal voltage-sensitive sodium channel from human heart has been cloned, sequenced, and functionally expressed and exhibits rapid activation and inactivation kinetics similar to native cardiac sodium channels. Expand
Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle
TLDR
It is suggested that SkM2 is a TTX-insensitive sodium channel expressed in both skeletal and cardiac muscle, similar to other recently cloned sodium channels from rat skeletal muscle. Expand
Primary structure and functional expression of a mammalian skeletal muscle sodium channel
TLDR
The isolation and characterization of a cDNA encoding the alpha subunit of a new voltage-sensitive sodium channel, microI, from rat skeletal muscle is described, and northern blot analysis indicates that the 8.5 kb microI transcript is preferentially expressed in skeletal muscle. Expand
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
TLDR
The use of the single-strand conformation polymorphism technique is reported to be used to define alleles specific to PC patients from three families, establishing the chromosome 17q NaCh locus as the PC gene and representing two mutations causing the distinctive, temperature-sensitive PC phenotype. Expand
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
  • N. Yang, S. Ji, +4 authors A. George
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 20 December 1994
TLDR
Findings help to explain the phenotypic differences between HYPP and PC at the molecular and biophysical level and contribute to the understanding of Na+ channel structure and function. Expand
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
TLDR
DNA from seven unrelated patients with hyperkalemic periodic paralysis was examined for mutations in the adult skeletal muscle sodium channel gene (SCN4A) known to be genetically linked to the disorder, and a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN 4A as the HYPP gene. Expand
Characteristics of saxitoxin binding to the sodium channel of sarcolemma isolated from rat skeletal muscle.
TLDR
Sarcolemma provides a potential source of enriched Na channels for further purification efforts in a mammalian system and the STX binding site is relatively stable to heat and to enzymic degradation. Expand
TTX-sensitive and TTX-insensitive sodium channel mRNA transcripts are independently regulated in adult skeletal muscle after denervation
TLDR
Quantal acetylcholine release appears to play a major role in suppression ofSkM2 expression in adult innervated or reinnervated muscle, whereas nonquantal factors in toxin-treated, but not axotomized, muscle may sustain high level SkM2 mRNA expression. Expand
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