Channelpedia

PubMed 9703181


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Nav1.4



Title: Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

Authors: M G Hanna, J Stewart, A H Schapira, N W Wood, J A Morgan-Hughes, N M Murray

Journal, date & volume: J. Neurol. Neurosurg. Psychiatr., 1998 Aug , 65, 248-50

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9703181


Abstract
A 35 year old woman with clinical features of hyperkalaemic periodic paralysis confirmed on provocative exercise testing was investigated. DNA sequence analysis of the gene for the alpha-subunit of the skeletal muscle voltage gated sodium channel (SCN4A) on chromosome 17q23 identified a point mutation at nucleotide position 2188. This results in a threonine to methionine substitution at amino acid position 704. The patient was intolerant of diuretic medication but showed a striking clinical and electrophysiological improvement with salbutamol therapy. Treatment with beta-adrenergic agents should be considered in patients with hyperkalaemic periodic paralysis who are intolerant of, or resistant to, diuretic medications.