Identification of a mutation in the gene causing hyperkalemic periodic paralysis

Cell

Volumn 67, Issue 5, 1991, Pages 1021-1027

  Ptáček, Louis J ^a   George Jr , Alfred L ^a   Griggs, Robert C ^d   Tawil, Rabi ^d   Kallen, Roland G ^c   Barchi, Robert L ^c   Robertson, Margaret ^a,b   Leppert, Mark F ^a,b  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ARTICLE; CLINICAL ARTICLE; GENE MUTATION; HUMAN; HUMAN TISSUE; PERIODIC PARALYSIS; PRIORITY JOURNAL; SKELETAL MUSCLE;

AMINO ACID SEQUENCE; ANIMAL; COMPARATIVE STUDY; GENES; HUMAN; HYPERKALEMIA; MODELS, STRUCTURAL; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; PARALYSES, FAMILIAL PERIODIC; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, NUCLEIC ACID; SODIUM CHANNELS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0025790174     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/0092-8674(91)90374-8     Document Type: Article

References (42)

1. Inactivation of the sodium channel
2. A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel
3. Probing the molecular structure of the voltage-dependent sodium channel
4. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
5. Progressive myopathy in hyperkalemic periodic paralysis
6. A sodium channel defect in hyperkalemic periodic paralysis: potassium induced failure of inactivation
7. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
8. Mechanisms of disease: calcium and ischemic injury
9. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
10. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
11. Hyperkalemic periodic paralysis and the adult muscle sodium channel gene
12. + channel
13. The myotonic disorders and the periodic paralyses
14. Identification and characterization of the familial adenomatous polyposis coli gene
15. Molecular model of the action potential sodium channel
16. Biophysical and molecular mechanisms of Shaker potassium channel inactivation
17. Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita
18. Identification of deletion mutations and three new genes at the familial polyposis locus
19. Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle
20. Membrane defects in paramyotonia congenita with and without myotonia in a warm environment
21. Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH
22. Calcium-mediated myopathy at neuromuscular junctions of normal and dystrophic muscle
23. Regulation of plasma potassium in hyperkalemic periodic paralysis
24. Molecular analysis of the para locus, a sodium channel gene in Drosophila
25. Changes in sodium channel gating produced by point mutations in a cytoplasmic linker
26. Primary structure of electrophorus electricus sodium channel deduced from cDNA sequences
27. Existence of distinct sodium channel messenger RNA's in rat brain
28. Molecular structure of sodium channels
29. Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformatión polymorphisms
30. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
31. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus
32. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus
33. Linkage of atypical myotonia congenita to a sodium channel locus
34. Molecular cloning of a putative tetrodotoxin-resistant rat heart sodium channel isoform
35. Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica
36. Genomic organization and deduced amino acid sequence of a putative sodium channel gene in Drosophila
37. Structural parts involved in activation and inactivation of the sodium channel
38. Molecular diversity of voltage-sensitive Na channels
39. Primary structure and functional expression of a mammalian skeletal muscle sodium channel
40. Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia
41. Identification of an intracellular peptide segment involved in sodium channel activation
42. Mitochondrial calcium overload: general mechanism for cell necrosis in muscle disease