Ion channels in disease

Current Opinion in Pediatrics

Volumn 13, Issue 2, 2001, Pages 142-149

  Bockenhauer, Detlef ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL;

BARTTER SYNDROME; CENTRAL NERVOUS SYSTEM; CHILD; ELECTROCARDIOGRAM; EPILEPSY; FAMILIAL DISEASE; GENE MUTATION; HEART ARRHYTHMIA; HUMAN; HYPERINSULINISM; KIDNEY DISEASE; MALIGNANT HYPERTHERMIA; MEMBRANE CHANNEL; MOTOR NERVE; MYOTONIA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE;

CARDIOVASCULAR DISEASES; DIGESTIVE SYSTEM DISEASES; HUMANS; ION CHANNELS; KIDNEY DISEASES; MUSCULOSKELETAL DISEASES; NERVOUS SYSTEM DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0035033166     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200104000-00010     Document Type: Review

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33. A novel potassium channel gene KCNQ2, is mutated in an inhented epilepsy of newborns
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38. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
39. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
40. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
41. De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
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45. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes
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49. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
50. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
51. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
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53. A common molecular basis for three inherited kidney stone diseases
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55. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
56. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
57. Molecular mechanism for an inherited cardiac arrhythmia
58. Disorders of neuromuscular junction ion channels
59. Ryanodine receptor autoantibodies in myasthenia gravis patients with a thymoma
60. An autoimmune channelopathy associated with cancer: Lambert-Eaton myasthenic syndrome