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Abstract
Voltage‐gated sodium channels are responsible for the upstroke of the action potential and thereby play an important role in propagation of the electrical impulse in excitable tissues like muscle, nerve and the heart. Duplication of the sodium channels encoding genes during evolution generated the sodium channel gene family with the different isoforms differing in biophysical properties and tissue distribution. In this review article, mutations in these genes leading to various inherited disorders are discussed.
| Abbreviations | ||
| BFNIS | = | benign familial neonatal‐infantile seizures |
| BrS | = | Brugada syndrome |
| CMD1E | = | dilated cardiomyopathy‐1E |
| FEB3 | = | familial febrile convulsions‐3 |
| FHM | = | familial hemiplegic migraine |
| FRP | = | familial rectal pain |
| GEFS+ | = | generalized epilepsy with febrile seizures plus |
| HOKPP | = | hypokalemic periodic paralysis |
| HYPP | = | hyperkalemic periodic paralysis |
| ICEGTC | = | intractable childhood epilepsies and frequent generalized tonic‐clonic seizures |
| LQT3 | = | long QT syndrome type 3 |
| LQTS | = | long QT syndrome |
| PCCD | = | progressive cardiac conduction defect |
| PMC | = | paramyotonia congenital |
| SIDS | = | sudden infant death syndrome |
| SMEB | = | borderline SMEI |
| SMEI | = | severe myoclonic epilepsy of infancy |
| SSS | = | sick sinus syndrome |
| Abbreviations | ||
| BFNIS | = | benign familial neonatal‐infantile seizures |
| BrS | = | Brugada syndrome |
| CMD1E | = | dilated cardiomyopathy‐1E |
| FEB3 | = | familial febrile convulsions‐3 |
| FHM | = | familial hemiplegic migraine |
| FRP | = | familial rectal pain |
| GEFS+ | = | generalized epilepsy with febrile seizures plus |
| HOKPP | = | hypokalemic periodic paralysis |
| HYPP | = | hyperkalemic periodic paralysis |
| ICEGTC | = | intractable childhood epilepsies and frequent generalized tonic‐clonic seizures |
| LQT3 | = | long QT syndrome type 3 |
| LQTS | = | long QT syndrome |
| PCCD | = | progressive cardiac conduction defect |
| PMC | = | paramyotonia congenital |
| SIDS | = | sudden infant death syndrome |
| SMEB | = | borderline SMEI |
| SMEI | = | severe myoclonic epilepsy of infancy |
| SSS | = | sick sinus syndrome |
Acknowledgements
The authors wish to thank A.C. Linnenbank for preparing the figure and A.C.G. van Ginneken for critical reading of the manuscript. This work is supported by Netherlands Heart Foundation grants 2003B195 (CRB) and 2003T302 (AAMW), and the Interuniversity Cardiology Institute of the Netherlands (project 27, AAMW). Connie R. Bezzina is an Established Investigator of the Netherlands Heart Foundation (Grant 2005/T024).