| Chapter title |
Sodium Channelopathies of Skeletal Muscle
|
|---|---|
| Chapter number | 52 |
| Book title |
Voltage-gated Sodium Channels: Structure, Function and Channelopathies
|
| Published in |
Handbook of experimental pharmacology, January 2017
|
| DOI | 10.1007/164_2017_52 |
| Pubmed ID | |
| Book ISBNs |
978-3-31-990283-8, 978-3-31-990284-5
|
| Authors |
Stephen C. Cannon, Cannon, Stephen C. |
| Abstract |
The NaV1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na+ current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia. Mutation-specific alternations of NaV1.4 function explain the mechanistic basis for the diverse phenotypes and identify opportunities for strategic intervention to modify the burden of disease. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 73 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 12 | 16% |
| Researcher | 10 | 14% |
| Student > Ph. D. Student | 8 | 11% |
| Professor | 4 | 5% |
| Other | 3 | 4% |
| Other | 12 | 16% |
| Unknown | 24 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 18% |
| Neuroscience | 11 | 15% |
| Biochemistry, Genetics and Molecular Biology | 9 | 12% |
| Pharmacology, Toxicology and Pharmaceutical Science | 5 | 7% |
| Agricultural and Biological Sciences | 2 | 3% |
| Other | 5 | 7% |
| Unknown | 28 | 38% |