Genetics, an alternative way to discover, characterize and understand ion channels

Clinical and Experimental Pharmacology and Physiology

Volumn 28, Issue 1-2, 2001, Pages 84-88

  Schofield, Peter R ^a  

^a GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

Allele; Channelopathy; Genetics; Glycine receptor; Hyperekplexia; Linkage; Myotonia; Periodic paralysis

Indexed keywords

CHLORIDE ION; DNA MARKER; GLYCINE RECEPTOR; POTASSIUM ION;

ATAXIA; CONFERENCE PAPER; EPILEPSY; GENETIC ANALYSIS; GENETIC LINKAGE; HEART DISEASE; HEART VENTRICLE FIBRILLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; ION TRANSPORT; LONG QT SYNDROME; MALIGNANT HYPERTHERMIA; MIGRAINE; MOLECULAR CLONING; MOLECULAR GENETICS; MYASTHENIA; MYOTONIA; NEUROLOGIC DISEASE; NEUROMUSCULAR DISEASE; PATHOPHYSIOLOGY; PERIODIC PARALYSIS; STARTLE EPILEPSY; STRUCTURE ACTIVITY RELATION;

ALLELES; ANIMALS; CHROMOSOME MAPPING; GENE ORDER; HUMANS; ION CHANNELS; MUTATION; MYOTONIA; PARALYSES, FAMILIAL PERIODIC; RECEPTORS, GLYCINE;

EID: 0035161669     PISSN: 03051870     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1681.2001.03409.x     Document Type: Conference Paper

References (24)

1. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene
2. The glycine receptor
3. Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
4. A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5
5. Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH
6. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
7. Heritable mutations in the glycine, GABAA, and nicotinic acetylcholine receptors provide new insights into the ligand-gated ion channel receptor superfamily
8. Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
9. Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonists into competitive antagonists
10. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel
11. Properties of human glycine receptors containing the hyperekplexia mutation alpha 1 (K276E), expressed in Xenopus oocytes
12. The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating
13. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
14. Acetylcholine receptor channel imaged in the open state
15. Hereditary nondystrophic myotonias and periodic paralyses
16. The skeletal muscle chloride channel in dominant and recessive human myotonia
17. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene
18. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)
19. + channel alpha-subunit in hyperkalaemic periodic paralysis
20. Identification of a mutation in the gene causing hyperkalemic periodic paralysis
21. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
22. Ion-channel defects and aberrant excitability in myotonia and periodic paralysis
23. Sodium channel defects in myotonia and periodic paralysis
24. The skeletal muscle sodium and chloride channel diseases