Cell
Volume 67, Issue 5, 29 November 1991, Pages 1021-1027
ArticleIdentification of a mutation in the gene causing hyperkalemic periodic paralysis
References (42)
- 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.
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
Anal. Biochem.
(1987) - et al.
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
Cell
(1990) - et al.
Identification and characterization of the familial adenomatous polyposis coli gene
Cell
(1991) - et al.
Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita
Neuromuscular Disorders
(1991) - et al.
Identification of deletion mutations and three new genes at the familial polyposis locus
Cell
(1991) - et al.
Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle
Neuron
(1990) - et al.
Molecular analysis of the para locus, a sodium channel gene in Drosophila
Cell
(1989)
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
Genomics
(1989)
Mitochondrial calcium overload: general mechanism for cell necrosis in muscle disease
Lancet
(1976)
Inactivation of the sodium channel
J. Gen. Physiol.
(1977)
A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel
Probing the molecular structure of the voltage-dependent sodium channel
Annu. Rev. Neurosci.
(1988)
Progressive myopathy in hyperkalemic periodic paralysis
Arch. Neurol.
(1990)
Mechanisms of disease: calcium and ischemic injury
N. Engl. J. Med.
(1986)
Hyperkalemic periodic paralysis and the adult muscle sodium channel gene
Science
(1990)
Primary structure of the adult human skeletal muscle voltage-dependent Na+ channel
Ann. Neurol.
(1992)
The myotonic disorders and the periodic paralyses
Adv. Neurol.
(1977)
Molecular model of the action potential sodium channel
Cited by (360)
Structural determination of human Na<inf>v</inf>1.4 and Na<inf>v</inf>1.7 using single particle cryo-electron microscopy
2021, Methods in EnzymologyCitation Excerpt :To be specific, Nav1.1–1.3 and Nav1.6 exist mainly in the central nervous system; mutations of which can result in different types of epilepsies (Ahmed et al., 1992; Burbidge et al., 2002; Chen et al., 2000; Ito et al., 2002). Nav1.4 is expressed in the skeletal muscle, whose dysfunction can cause periodic paralysis (Ptacek et al., 1991). Nav1.5 is expressed in the heart, and its abnormal function can lead to cardiac arrhythmia (Gellens et al., 1992).
Skeletal Muscle Channelopathies
2020, Neurologic ClinicsMuscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches
2020, The Lancet Child and Adolescent HealthMuscle channelopathies: Periodic paralyses and nondystrophic myotonias
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2A mechanistic reinterpretation of fast inactivation in voltage-gated Na<sup>+</sup> channels
2023, Nature Communications
Copyright © 1991