Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?
- 1 March 1995
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 37 (3) , 408-411
- https://doi.org/10.1002/ana.410370320
Abstract
A patient is presented with hyperkalemic periodic paralysis (HyperPP) and a cardiac dysrhythmia. An amino acid substitution (Val783Ile) in the adult skeletal muscle sodium channel gene was detected. Although lack of available family members precluded rigorous genetic tests, the sodium channel change may be responsible for HyperPP in this patient and could also be responsible for the associated cardiac dysrhythmia.Keywords
This publication has 13 references indexed in Scilit:
- Duchenne-Becker Muscular Dystrophy and the Nondystrophic MyotoniasArchives of Neurology, 1993
- Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel DiseasesArchives of Neurology, 1993
- Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.The Journal of Physiology, 1993
- Hyperkalemic periodic paralysisNeurology, 1993
- Functional expression of sodium channel mutations identified in families with periodic paralysisNeuron, 1993
- Long-standing bidirectional tachycardia in a patient with hypokalemic periodic paralysisJournal of Electrocardiology, 1988
- Potentially fata1 cardiac dysrhythmia and hyperkalemic periodic paralysisNeurology, 1985
- Hypokalemic Periodic Paralysis with ArrhythmiaNew England Journal of Medicine, 1972
- INTERMITTENT MUSCULAR WEAKNESS, EXTRASYSTOLES, AND MULTIPLE DEVELOPMENTAL ANOMALIESActa Paediatrica, 1971
- Periodic paralysis with cardiac arrhythmiaThe Journal of Pediatrics, 1963