Sodium Channelopathies: From Molecular Physiology towards Medical Genetics
| Autor: | G. G. Varenikov, M. Yu. Skoblov, Andrey V. Marakhonov |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Gene isoform medicine.medical_specialty Sodium channel Sodium chemistry.chemical_element Depolarization Biology medicine.disease Human genetics Transmembrane protein Cell biology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine chemistry Genetics medicine Medical genetics 030217 neurology & neurosurgery Congenital insensitivity to pain |
| Zdroj: | Russian Journal of Genetics. 54:45-56 |
| ISSN: | 1608-3369 1022-7954 |
| Popis: | Voltage-gated sodium channels are heteromeric transmembrane proteins involved in the conduction of sodium ion currents in response to membrane depolarization. In humans, nine homologous genes, SCN1A–11A, which encode different isoforms of the voltage-gated sodium channel family, are known. Sodium channel isoforms exhibit different kinetic properties that determine different types of neurons. Mutations in different channels are described in patients with various congenital disorders, from epilepsy to congenital insensitivity to pain. This review presents an analysis of the current literature on the properties of different isoforms of voltage-gated sodium channels and associated diseases. |
| Databáze: | OpenAIRE |
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