Ligand-gated ion channelopathies: Mutations in different genes causing one disease: Editorial

Neurology

Volumn 55, Issue 10, 2000, Pages 1429-1430

  Ptácek, Louis J ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL;

CHANNEL GATING; EDITORIAL; EPILEPSY; GENE MUTATION; HUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 0034727609     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.10.1429     Document Type: Editorial

References (8)

1. Identification of a mutation in the gene causing hyperkalemic periodic paralysis
2. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis
3. Congenital myasthenic syndromes
4. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
5. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
6. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1
7. Randomized trials of dichlorphenamide in the periodic paralyses