Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+.
Gespeichert in:
| Veröffentlicht in: | Epilepsy research 2016-12, Vol.128, p.48-51 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 51 |
|---|---|
| container_issue | |
| container_start_page | 48 |
| container_title | Epilepsy research |
| container_volume | 128 |
| creator | Rigbye, Kristin A van Hasselt, Peter M Burgess, Rosemary Damiano, John A Mullen, Saul A Petrovski, Slavé Puranam, Ram S van Gassen, Koen L.I Gecz, Jozef Scheffer, Ingrid E McNamara, James O Berkovic, Samuel F Hildebrand, Michael S |
| description | Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+. |
| doi_str_mv | 10.1016/j.eplepsyres.2016.10.008 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1836736016</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0920121116302467</els_id><sourcerecordid>1836736016</sourcerecordid><originalsourceid>FETCH-LOGICAL-c429t-91dfe3e03e2d791814040325efefea1d6188d2364ed7ae1cc4bf47a0ed3e9bd43</originalsourceid><addsrcrecordid>eNqNkcFu1DAQhi0EokvhFZCPXLLM2G7iXEBQsaXSShxazpZjT8AhmwQ7AW2fHoctIHGqfLA9_md-zzeMcYQtApavuy1NPU3pGCltRY7k8BZAP2Ib1JUoSq3UY7aBWkCBAvGMPUupA4AKlHrKzkSlES6w3LD9deK7qx1KbvnBdmPkbhzmGJplzud55F9ooDk4TlP47ch_hvkrb6mJ-c4Thbslf4JP_ZLePmdPWtsnenG_n7PPuw-3lx-L_aer68t3-8IpUc9Fjb4lSSBJ-KpGjQoUSHFBbV4WfYlaeyFLRb6yhM6pplWVBfKS6sYrec5enepOcfy-UJrNISRHfW8HGpdkUMuykmXmkqX6JHVxTClSa6YYDjYeDYJZWZrO_GNpVpbrS2aZU1_euyzNgfzfxD_wsuD9SUC51x-Bokku0ODIh0huNn4MD3F5818R14chONt_oyOlblzikFkaNEkYMDfrTNeRZn8QKrf5CxiQn7Q</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1836736016</pqid></control><display><type>article</type><title>Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Rigbye, Kristin A ; van Hasselt, Peter M ; Burgess, Rosemary ; Damiano, John A ; Mullen, Saul A ; Petrovski, Slavé ; Puranam, Ram S ; van Gassen, Koen L.I ; Gecz, Jozef ; Scheffer, Ingrid E ; McNamara, James O ; Berkovic, Samuel F ; Hildebrand, Michael S</creator><creatorcontrib>Rigbye, Kristin A ; van Hasselt, Peter M ; Burgess, Rosemary ; Damiano, John A ; Mullen, Saul A ; Petrovski, Slavé ; Puranam, Ram S ; van Gassen, Koen L.I ; Gecz, Jozef ; Scheffer, Ingrid E ; McNamara, James O ; Berkovic, Samuel F ; Hildebrand, Michael S</creatorcontrib><description>Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+.</description><identifier>ISSN: 0920-1211</identifier><identifier>EISSN: 1872-6844</identifier><identifier>DOI: 10.1016/j.eplepsyres.2016.10.008</identifier><identifier>PMID: 27810516</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Child, Preschool ; Cohort Studies ; Edema - genetics ; Epilepsy, Generalized - genetics ; Face ; Female ; FGF13 ; Fibroblast Growth Factors - genetics ; GEFS ; Genes, X-Linked ; Genetic Testing ; Humans ; Male ; Mutation, Missense ; Neurology ; Phenotype ; Seizures, Febrile - genetics ; Sequencing ; SOXF Transcription Factors - genetics</subject><ispartof>Epilepsy research, 2016-12, Vol.128, p.48-51</ispartof><rights>Elsevier B.V.</rights><rights>2016 Elsevier B.V.</rights><rights>Copyright © 2016 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c429t-91dfe3e03e2d791814040325efefea1d6188d2364ed7ae1cc4bf47a0ed3e9bd43</citedby><cites>FETCH-LOGICAL-c429t-91dfe3e03e2d791814040325efefea1d6188d2364ed7ae1cc4bf47a0ed3e9bd43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0920121116302467$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27810516$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rigbye, Kristin A</creatorcontrib><creatorcontrib>van Hasselt, Peter M</creatorcontrib><creatorcontrib>Burgess, Rosemary</creatorcontrib><creatorcontrib>Damiano, John A</creatorcontrib><creatorcontrib>Mullen, Saul A</creatorcontrib><creatorcontrib>Petrovski, Slavé</creatorcontrib><creatorcontrib>Puranam, Ram S</creatorcontrib><creatorcontrib>van Gassen, Koen L.I</creatorcontrib><creatorcontrib>Gecz, Jozef</creatorcontrib><creatorcontrib>Scheffer, Ingrid E</creatorcontrib><creatorcontrib>McNamara, James O</creatorcontrib><creatorcontrib>Berkovic, Samuel F</creatorcontrib><creatorcontrib>Hildebrand, Michael S</creatorcontrib><title>Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?</title><title>Epilepsy research</title><addtitle>Epilepsy Res</addtitle><description>Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+.</description><subject>Child, Preschool</subject><subject>Cohort Studies</subject><subject>Edema - genetics</subject><subject>Epilepsy, Generalized - genetics</subject><subject>Face</subject><subject>Female</subject><subject>FGF13</subject><subject>Fibroblast Growth Factors - genetics</subject><subject>GEFS</subject><subject>Genes, X-Linked</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation, Missense</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Seizures, Febrile - genetics</subject><subject>Sequencing</subject><subject>SOXF Transcription Factors - genetics</subject><issn>0920-1211</issn><issn>1872-6844</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkcFu1DAQhi0EokvhFZCPXLLM2G7iXEBQsaXSShxazpZjT8AhmwQ7AW2fHoctIHGqfLA9_md-zzeMcYQtApavuy1NPU3pGCltRY7k8BZAP2Ib1JUoSq3UY7aBWkCBAvGMPUupA4AKlHrKzkSlES6w3LD9deK7qx1KbvnBdmPkbhzmGJplzud55F9ooDk4TlP47ch_hvkrb6mJ-c4Thbslf4JP_ZLePmdPWtsnenG_n7PPuw-3lx-L_aer68t3-8IpUc9Fjb4lSSBJ-KpGjQoUSHFBbV4WfYlaeyFLRb6yhM6pplWVBfKS6sYrec5enepOcfy-UJrNISRHfW8HGpdkUMuykmXmkqX6JHVxTClSa6YYDjYeDYJZWZrO_GNpVpbrS2aZU1_euyzNgfzfxD_wsuD9SUC51x-Bokku0ODIh0huNn4MD3F5818R14chONt_oyOlblzikFkaNEkYMDfrTNeRZn8QKrf5CxiQn7Q</recordid><startdate>20161201</startdate><enddate>20161201</enddate><creator>Rigbye, Kristin A</creator><creator>van Hasselt, Peter M</creator><creator>Burgess, Rosemary</creator><creator>Damiano, John A</creator><creator>Mullen, Saul A</creator><creator>Petrovski, Slavé</creator><creator>Puranam, Ram S</creator><creator>van Gassen, Koen L.I</creator><creator>Gecz, Jozef</creator><creator>Scheffer, Ingrid E</creator><creator>McNamara, James O</creator><creator>Berkovic, Samuel F</creator><creator>Hildebrand, Michael S</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20161201</creationdate><title>Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?</title><author>Rigbye, Kristin A ; van Hasselt, Peter M ; Burgess, Rosemary ; Damiano, John A ; Mullen, Saul A ; Petrovski, Slavé ; Puranam, Ram S ; van Gassen, Koen L.I ; Gecz, Jozef ; Scheffer, Ingrid E ; McNamara, James O ; Berkovic, Samuel F ; Hildebrand, Michael S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c429t-91dfe3e03e2d791814040325efefea1d6188d2364ed7ae1cc4bf47a0ed3e9bd43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Child, Preschool</topic><topic>Cohort Studies</topic><topic>Edema - genetics</topic><topic>Epilepsy, Generalized - genetics</topic><topic>Face</topic><topic>Female</topic><topic>FGF13</topic><topic>Fibroblast Growth Factors - genetics</topic><topic>GEFS</topic><topic>Genes, X-Linked</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation, Missense</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>Seizures, Febrile - genetics</topic><topic>Sequencing</topic><topic>SOXF Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rigbye, Kristin A</creatorcontrib><creatorcontrib>van Hasselt, Peter M</creatorcontrib><creatorcontrib>Burgess, Rosemary</creatorcontrib><creatorcontrib>Damiano, John A</creatorcontrib><creatorcontrib>Mullen, Saul A</creatorcontrib><creatorcontrib>Petrovski, Slavé</creatorcontrib><creatorcontrib>Puranam, Ram S</creatorcontrib><creatorcontrib>van Gassen, Koen L.I</creatorcontrib><creatorcontrib>Gecz, Jozef</creatorcontrib><creatorcontrib>Scheffer, Ingrid E</creatorcontrib><creatorcontrib>McNamara, James O</creatorcontrib><creatorcontrib>Berkovic, Samuel F</creatorcontrib><creatorcontrib>Hildebrand, Michael S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Epilepsy research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rigbye, Kristin A</au><au>van Hasselt, Peter M</au><au>Burgess, Rosemary</au><au>Damiano, John A</au><au>Mullen, Saul A</au><au>Petrovski, Slavé</au><au>Puranam, Ram S</au><au>van Gassen, Koen L.I</au><au>Gecz, Jozef</au><au>Scheffer, Ingrid E</au><au>McNamara, James O</au><au>Berkovic, Samuel F</au><au>Hildebrand, Michael S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?</atitle><jtitle>Epilepsy research</jtitle><addtitle>Epilepsy Res</addtitle><date>2016-12-01</date><risdate>2016</risdate><volume>128</volume><spage>48</spage><epage>51</epage><pages>48-51</pages><issn>0920-1211</issn><eissn>1872-6844</eissn><abstract>Highlights • Genetic analysis of 46 patients with generalized epilepsy with febrile seizures plus (GEFS+) was performed. • One de novo missense mutation of FGF13 was found in a single patient. • Our data suggests FGF13 is not a common cause of GEFS+.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>27810516</pmid><doi>10.1016/j.eplepsyres.2016.10.008</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0920-1211 |
| ispartof | Epilepsy research, 2016-12, Vol.128, p.48-51 |
| issn | 0920-1211 1872-6844 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1836736016 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Child, Preschool Cohort Studies Edema - genetics Epilepsy, Generalized - genetics Face Female FGF13 Fibroblast Growth Factors - genetics GEFS Genes, X-Linked Genetic Testing Humans Male Mutation, Missense Neurology Phenotype Seizures, Febrile - genetics Sequencing SOXF Transcription Factors - genetics |
| title | Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-20T18%3A51%3A29IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Is%20FGF13%20a%20major%20contributor%20to%20genetic%20epilepsy%20with%20febrile%20seizures%20plus?&rft.jtitle=Epilepsy%20research&rft.au=Rigbye,%20Kristin%20A&rft.date=2016-12-01&rft.volume=128&rft.spage=48&rft.epage=51&rft.pages=48-51&rft.issn=0920-1211&rft.eissn=1872-6844&rft_id=info:doi/10.1016/j.eplepsyres.2016.10.008&rft_dat=%3Cproquest_cross%3E1836736016%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1836736016&rft_id=info:pmid/27810516&rft_els_id=S0920121116302467&rfr_iscdi=true |