Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
Summary Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70–80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may cont...
Gespeichert in:
| Veröffentlicht in: | Epilepsia (Copenhagen) 2013-09, Vol.54 (9), p.e122-e126 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | e126 |
|---|---|
| container_issue | 9 |
| container_start_page | e122 |
| container_title | Epilepsia (Copenhagen) |
| container_volume | 54 |
| creator | Mulley, John C. Hodgson, Bree McMahon, Jacinta M. Iona, Xenia Bellows, Susannah Mullen, Saul A Farrell, Kevin Mackay, Mark Sadleir, Lynette Bleasel, Andrew Gill, Deepak Webster, Richard Wirrell, Elaine C. Harbord, Michael Sisodiya, Sanyjay Andermann, Eva Kivity, Sara Berkovic, Samuel F. Scheffer, Ingrid E. Dibbens, Leanne M. |
| description | Summary
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70–80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrant SCN9A mutations. |
| doi_str_mv | 10.1111/epi.12323 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1458541260</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3169866511</sourcerecordid><originalsourceid>FETCH-LOGICAL-p3123-82817f26a7c988fc33e638efdf773c95bbcdb302202fa4a134e1ea14409575283</originalsourceid><addsrcrecordid>eNqNkclOwzAQhi0EoqVw4AWQJS5c0npJYueISoFKFSCWc-QkE-oqG3ZCFZ4ed4EDJ-YyM5pPs_yD0DklY-psAo0eU8YZP0BDGjDpURqKQzQkhHIvCiQZoBNrV4QQEQp-jAaMyygIOBmi9LkuANc5bpeAbZ3prsTpUlUVFPhl-hBdY13hd6ig1Sl2cwpobI_Xul3iHBLjcmxBf3UGLG6KzmJVZfjGqE9ose2rzNQlnKKjXBUWzvZ-hN5uZ6_Te2_xeDefXi-8hrvtPckkFTkLlUgjKfOUcwi5hDzLheBpFCRJmiWcMEZYrnxFuQ8UFPV9EgXCXc1H6GrXtzH1Rwe2jUttUygKVUHd2Zj6gQx8ykLyD9StFPn-Fr38g67qzlTuEEcJRqjYSDlCF3uqS0rI4sboUpk-_lHaAZMdsHaa9b91SuLNC2Mnbbx9YTx7mm8D_g3DIIuJ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1472017955</pqid></control><display><type>article</type><title>Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome</title><source>MEDLINE</source><source>Wiley Free Content</source><source>IngentaConnect Free/Open Access Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Wiley Online Library All Journals</source><source>Alma/SFX Local Collection</source><creator>Mulley, John C. ; Hodgson, Bree ; McMahon, Jacinta M. ; Iona, Xenia ; Bellows, Susannah ; Mullen, Saul A ; Farrell, Kevin ; Mackay, Mark ; Sadleir, Lynette ; Bleasel, Andrew ; Gill, Deepak ; Webster, Richard ; Wirrell, Elaine C. ; Harbord, Michael ; Sisodiya, Sanyjay ; Andermann, Eva ; Kivity, Sara ; Berkovic, Samuel F. ; Scheffer, Ingrid E. ; Dibbens, Leanne M.</creator><creatorcontrib>Mulley, John C. ; Hodgson, Bree ; McMahon, Jacinta M. ; Iona, Xenia ; Bellows, Susannah ; Mullen, Saul A ; Farrell, Kevin ; Mackay, Mark ; Sadleir, Lynette ; Bleasel, Andrew ; Gill, Deepak ; Webster, Richard ; Wirrell, Elaine C. ; Harbord, Michael ; Sisodiya, Sanyjay ; Andermann, Eva ; Kivity, Sara ; Berkovic, Samuel F. ; Scheffer, Ingrid E. ; Dibbens, Leanne M.</creatorcontrib><description>Summary
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70–80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrant SCN9A mutations.</description><identifier>ISSN: 0013-9580</identifier><identifier>EISSN: 1528-1167</identifier><identifier>DOI: 10.1111/epi.12323</identifier><identifier>PMID: 23895530</identifier><identifier>CODEN: EPILAK</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Clinical heterogeneity ; Convulsions & seizures ; Dravet syndrome ; Epilepsies, Myoclonic - genetics ; Epilepsy ; Febrile seizures ; Genetic epilepsy with febrile seizures plus ; Genetic modifier ; Genetic Predisposition to Disease ; Genetic susceptibility ; Genotype ; Humans ; Mutation ; Mutation - genetics ; NAV1.7 Voltage-Gated Sodium Channel - genetics ; Pedigree ; SCN1A ; SCN9A ; Seizures, Febrile - genetics ; Sodium Channels - genetics ; Susceptibility gene</subject><ispartof>Epilepsia (Copenhagen), 2013-09, Vol.54 (9), p.e122-e126</ispartof><rights>Wiley Periodicals, Inc. © 2013 International League Against Epilepsy</rights><rights>Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.</rights><rights>Copyright © 2013 International League Against Epilepsy</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fepi.12323$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fepi.12323$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,1432,27922,27923,45572,45573,46407,46831</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23895530$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mulley, John C.</creatorcontrib><creatorcontrib>Hodgson, Bree</creatorcontrib><creatorcontrib>McMahon, Jacinta M.</creatorcontrib><creatorcontrib>Iona, Xenia</creatorcontrib><creatorcontrib>Bellows, Susannah</creatorcontrib><creatorcontrib>Mullen, Saul A</creatorcontrib><creatorcontrib>Farrell, Kevin</creatorcontrib><creatorcontrib>Mackay, Mark</creatorcontrib><creatorcontrib>Sadleir, Lynette</creatorcontrib><creatorcontrib>Bleasel, Andrew</creatorcontrib><creatorcontrib>Gill, Deepak</creatorcontrib><creatorcontrib>Webster, Richard</creatorcontrib><creatorcontrib>Wirrell, Elaine C.</creatorcontrib><creatorcontrib>Harbord, Michael</creatorcontrib><creatorcontrib>Sisodiya, Sanyjay</creatorcontrib><creatorcontrib>Andermann, Eva</creatorcontrib><creatorcontrib>Kivity, Sara</creatorcontrib><creatorcontrib>Berkovic, Samuel F.</creatorcontrib><creatorcontrib>Scheffer, Ingrid E.</creatorcontrib><creatorcontrib>Dibbens, Leanne M.</creatorcontrib><title>Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome</title><title>Epilepsia (Copenhagen)</title><addtitle>Epilepsia</addtitle><description>Summary
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70–80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrant SCN9A mutations.</description><subject>Clinical heterogeneity</subject><subject>Convulsions & seizures</subject><subject>Dravet syndrome</subject><subject>Epilepsies, Myoclonic - genetics</subject><subject>Epilepsy</subject><subject>Febrile seizures</subject><subject>Genetic epilepsy with febrile seizures plus</subject><subject>Genetic modifier</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic susceptibility</subject><subject>Genotype</subject><subject>Humans</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>NAV1.7 Voltage-Gated Sodium Channel - genetics</subject><subject>Pedigree</subject><subject>SCN1A</subject><subject>SCN9A</subject><subject>Seizures, Febrile - genetics</subject><subject>Sodium Channels - genetics</subject><subject>Susceptibility gene</subject><issn>0013-9580</issn><issn>1528-1167</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkclOwzAQhi0EoqVw4AWQJS5c0npJYueISoFKFSCWc-QkE-oqG3ZCFZ4ed4EDJ-YyM5pPs_yD0DklY-psAo0eU8YZP0BDGjDpURqKQzQkhHIvCiQZoBNrV4QQEQp-jAaMyygIOBmi9LkuANc5bpeAbZ3prsTpUlUVFPhl-hBdY13hd6ig1Sl2cwpobI_Xul3iHBLjcmxBf3UGLG6KzmJVZfjGqE9ose2rzNQlnKKjXBUWzvZ-hN5uZ6_Te2_xeDefXi-8hrvtPckkFTkLlUgjKfOUcwi5hDzLheBpFCRJmiWcMEZYrnxFuQ8UFPV9EgXCXc1H6GrXtzH1Rwe2jUttUygKVUHd2Zj6gQx8ykLyD9StFPn-Fr38g67qzlTuEEcJRqjYSDlCF3uqS0rI4sboUpk-_lHaAZMdsHaa9b91SuLNC2Mnbbx9YTx7mm8D_g3DIIuJ</recordid><startdate>201309</startdate><enddate>201309</enddate><creator>Mulley, John C.</creator><creator>Hodgson, Bree</creator><creator>McMahon, Jacinta M.</creator><creator>Iona, Xenia</creator><creator>Bellows, Susannah</creator><creator>Mullen, Saul A</creator><creator>Farrell, Kevin</creator><creator>Mackay, Mark</creator><creator>Sadleir, Lynette</creator><creator>Bleasel, Andrew</creator><creator>Gill, Deepak</creator><creator>Webster, Richard</creator><creator>Wirrell, Elaine C.</creator><creator>Harbord, Michael</creator><creator>Sisodiya, Sanyjay</creator><creator>Andermann, Eva</creator><creator>Kivity, Sara</creator><creator>Berkovic, Samuel F.</creator><creator>Scheffer, Ingrid E.</creator><creator>Dibbens, Leanne M.</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7TK</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201309</creationdate><title>Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome</title><author>Mulley, John C. ; Hodgson, Bree ; McMahon, Jacinta M. ; Iona, Xenia ; Bellows, Susannah ; Mullen, Saul A ; Farrell, Kevin ; Mackay, Mark ; Sadleir, Lynette ; Bleasel, Andrew ; Gill, Deepak ; Webster, Richard ; Wirrell, Elaine C. ; Harbord, Michael ; Sisodiya, Sanyjay ; Andermann, Eva ; Kivity, Sara ; Berkovic, Samuel F. ; Scheffer, Ingrid E. ; Dibbens, Leanne M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p3123-82817f26a7c988fc33e638efdf773c95bbcdb302202fa4a134e1ea14409575283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Clinical heterogeneity</topic><topic>Convulsions & seizures</topic><topic>Dravet syndrome</topic><topic>Epilepsies, Myoclonic - genetics</topic><topic>Epilepsy</topic><topic>Febrile seizures</topic><topic>Genetic epilepsy with febrile seizures plus</topic><topic>Genetic modifier</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic susceptibility</topic><topic>Genotype</topic><topic>Humans</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>NAV1.7 Voltage-Gated Sodium Channel - genetics</topic><topic>Pedigree</topic><topic>SCN1A</topic><topic>SCN9A</topic><topic>Seizures, Febrile - genetics</topic><topic>Sodium Channels - genetics</topic><topic>Susceptibility gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mulley, John C.</creatorcontrib><creatorcontrib>Hodgson, Bree</creatorcontrib><creatorcontrib>McMahon, Jacinta M.</creatorcontrib><creatorcontrib>Iona, Xenia</creatorcontrib><creatorcontrib>Bellows, Susannah</creatorcontrib><creatorcontrib>Mullen, Saul A</creatorcontrib><creatorcontrib>Farrell, Kevin</creatorcontrib><creatorcontrib>Mackay, Mark</creatorcontrib><creatorcontrib>Sadleir, Lynette</creatorcontrib><creatorcontrib>Bleasel, Andrew</creatorcontrib><creatorcontrib>Gill, Deepak</creatorcontrib><creatorcontrib>Webster, Richard</creatorcontrib><creatorcontrib>Wirrell, Elaine C.</creatorcontrib><creatorcontrib>Harbord, Michael</creatorcontrib><creatorcontrib>Sisodiya, Sanyjay</creatorcontrib><creatorcontrib>Andermann, Eva</creatorcontrib><creatorcontrib>Kivity, Sara</creatorcontrib><creatorcontrib>Berkovic, Samuel F.</creatorcontrib><creatorcontrib>Scheffer, Ingrid E.</creatorcontrib><creatorcontrib>Dibbens, Leanne M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Epilepsia (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mulley, John C.</au><au>Hodgson, Bree</au><au>McMahon, Jacinta M.</au><au>Iona, Xenia</au><au>Bellows, Susannah</au><au>Mullen, Saul A</au><au>Farrell, Kevin</au><au>Mackay, Mark</au><au>Sadleir, Lynette</au><au>Bleasel, Andrew</au><au>Gill, Deepak</au><au>Webster, Richard</au><au>Wirrell, Elaine C.</au><au>Harbord, Michael</au><au>Sisodiya, Sanyjay</au><au>Andermann, Eva</au><au>Kivity, Sara</au><au>Berkovic, Samuel F.</au><au>Scheffer, Ingrid E.</au><au>Dibbens, Leanne M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome</atitle><jtitle>Epilepsia (Copenhagen)</jtitle><addtitle>Epilepsia</addtitle><date>2013-09</date><risdate>2013</risdate><volume>54</volume><issue>9</issue><spage>e122</spage><epage>e126</epage><pages>e122-e126</pages><issn>0013-9580</issn><eissn>1528-1167</eissn><coden>EPILAK</coden><abstract>Summary
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70–80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrant SCN9A mutations.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>23895530</pmid><doi>10.1111/epi.12323</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0013-9580 |
| ispartof | Epilepsia (Copenhagen), 2013-09, Vol.54 (9), p.e122-e126 |
| issn | 0013-9580 1528-1167 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1458541260 |
| source | MEDLINE; Wiley Free Content; IngentaConnect Free/Open Access Journals; EZB-FREE-00999 freely available EZB journals; Wiley Online Library All Journals; Alma/SFX Local Collection |
| subjects | Clinical heterogeneity Convulsions & seizures Dravet syndrome Epilepsies, Myoclonic - genetics Epilepsy Febrile seizures Genetic epilepsy with febrile seizures plus Genetic modifier Genetic Predisposition to Disease Genetic susceptibility Genotype Humans Mutation Mutation - genetics NAV1.7 Voltage-Gated Sodium Channel - genetics Pedigree SCN1A SCN9A Seizures, Febrile - genetics Sodium Channels - genetics Susceptibility gene |
| title | Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T12%3A00%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Role%20of%20the%20sodium%20channel%20SCN9A%20in%20genetic%20epilepsy%20with%20febrile%20seizures%20plus%20and%20Dravet%20syndrome&rft.jtitle=Epilepsia%20(Copenhagen)&rft.au=Mulley,%20John%20C.&rft.date=2013-09&rft.volume=54&rft.issue=9&rft.spage=e122&rft.epage=e126&rft.pages=e122-e126&rft.issn=0013-9580&rft.eissn=1528-1167&rft.coden=EPILAK&rft_id=info:doi/10.1111/epi.12323&rft_dat=%3Cproquest_pubme%3E3169866511%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1472017955&rft_id=info:pmid/23895530&rfr_iscdi=true |