Neuron
ArticleMutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
References (38)
Sodium channel diversity: subtle variations on a complex theme
Trends Neurosci.
(1987)- et al.
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
Cell
(1984) - et al.
A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation
Neuron
(1991) - et al.
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
Cell
(1990) - et al.
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
Cell
(1990) - et al.
Assignment of a human skeletal muscle sodium channel alpha subunit gene (SCN4A) to 17q23.1-25.3
Genomics
(1991) - et al.
Identification and characterization of the familial adenomatous polyposis coli gene
Cell
(1991) - et al.
Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle
Neuron
(1990) - et al.
Primary structure of rat brain sodium channel III deduced from the cDNA sequence
FEBS Lett.
(1988) - et al.
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
Genomics
(1989)
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
Cell
The periodic paralyses
Neurol. Clin.
Primary structure and functional expression of a mammalian skeletal muscle sodium channel
Neuron
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene
Ann. Neurol.
Hyperkalemic periodic paralysis and the adult muscle sodium channel gene
Science
Primary structure and partial genomic organization of the adult human skeletal muscle sodium channel
Biophys. J.
Primary structure of the adult human skeletal muscle voltage-dependent Na+ channel
Ann. Neurol.
Effects of acetazolamide on myotonia
Ann. Neurol.
Confirmation of linkage of hyperkalemic periodic paralysis to chromosome 17
J. Med. Genet.
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2020, Journal of Clinical NeuroscienceCitation Excerpt :The HypoKPP is inherited in an autosomal-dominant manner, and most of the individuals have a family history of the disorder. The majority of HypoKPP cases are caused by two mutations in the calcium channel CACNA1S gene: R528H and R1239H [6,10,11]. Other mutations seen with this disorder belong to two genes: SCN4A and KCNJ18.
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2016, Current Topics in MembranesCitation Excerpt :HyperPP is commonly triggered by periods of rest after exercise or the consumption of potassium-rich foods, with the increased extracellular potassium thought to initially trigger, and then disrupt Na+ channel activation (Venance et al., 2006). Missense mutations leading to HyperPP are present in highly conserved regions of the NaV1.4 channel (Rojas et al., 1991), the S4–S5 linker (Bendahhou, Cummins, Tawil, Waxman, & Ptácek, 1999) and the S4 voltage sensor (Ptacek et al., 1991). Electrophysiological data collected for these mutations tend to be inconsistent.
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