Sodium Channelopathies: From Molecular Physiology towards Medical Genetics
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 c...
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| Veröffentlicht in: | Russian journal of genetics 2018, Vol.54 (1), p.45-56 |
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| container_title | Russian journal of genetics |
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| creator | Marakhonov, A. V. Varenikov, G. G. Skoblov, M. Yu |
| description | 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. |
| doi_str_mv | 10.1134/S102279541801009X |
| format | Article |
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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.</description><identifier>ISSN: 1022-7954</identifier><identifier>EISSN: 1608-3369</identifier><identifier>DOI: 10.1134/S102279541801009X</identifier><language>eng</language><publisher>Moscow: Pleiades Publishing</publisher><subject>Animal Genetics and Genomics ; Biomedical and Life Sciences ; Biomedicine ; Human Genetics ; Microbial Genetics and Genomics ; Reviews and Theoretical Articles</subject><ispartof>Russian journal of genetics, 2018, Vol.54 (1), p.45-56</ispartof><rights>Pleiades Publishing, Inc. 2018</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c240t-8b5740f13e6ef592e0fd642985a6dde2dcfd4867d9ffaa795c1094880864c8c93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1134/S102279541801009X$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1134/S102279541801009X$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids></links><search><creatorcontrib>Marakhonov, A. V.</creatorcontrib><creatorcontrib>Varenikov, G. G.</creatorcontrib><creatorcontrib>Skoblov, M. Yu</creatorcontrib><title>Sodium Channelopathies: From Molecular Physiology towards Medical Genetics</title><title>Russian journal of genetics</title><addtitle>Russ J Genet</addtitle><description>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
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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.</abstract><cop>Moscow</cop><pub>Pleiades Publishing</pub><doi>10.1134/S102279541801009X</doi><tpages>12</tpages></addata></record> |
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| subjects | Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Human Genetics Microbial Genetics and Genomics Reviews and Theoretical Articles |
| title | Sodium Channelopathies: From Molecular Physiology towards Medical Genetics |
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