FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy
Highlights • We report 4 new cases of FARS2 mutation presenting with infantile-onset epilepsy. • Epilepsy phenotypes of 6 other reported FARS2 mutation-positive cases are reviewed. • FARS2 may be one of the genetic causes of early-onset epileptic encephalopathy.
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| Veröffentlicht in: | Epilepsy research 2017-01, Vol.129, p.118-124 |
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| container_end_page | 124 |
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| container_title | Epilepsy research |
| container_volume | 129 |
| creator | Cho, Jae So Kim, Seung Hyo Kim, Ha Young Chung, Taesu Kim, Dongsup Jang, Sesong Lee, Seung Bok Yoo, Seung Keun Shin, Jongyeon Kim, Jong-il Kim, Hunmin Hwang, Hee Chae, Jong-Hee Choi, Jieun Kim, Ki Joong Lim, Byung Chan |
| description | Highlights • We report 4 new cases of FARS2 mutation presenting with infantile-onset epilepsy. • Epilepsy phenotypes of 6 other reported FARS2 mutation-positive cases are reviewed. • FARS2 may be one of the genetic causes of early-onset epileptic encephalopathy. |
| doi_str_mv | 10.1016/j.eplepsyres.2016.11.022 |
| format | Article |
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All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c429t-232349c6c86cbf55885db641edee370c910665d3638f5e75988b9453994c63203</citedby><cites>FETCH-LOGICAL-c429t-232349c6c86cbf55885db641edee370c910665d3638f5e75988b9453994c63203</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.eplepsyres.2016.11.022$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28043061$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cho, Jae So</creatorcontrib><creatorcontrib>Kim, Seung Hyo</creatorcontrib><creatorcontrib>Kim, Ha Young</creatorcontrib><creatorcontrib>Chung, Taesu</creatorcontrib><creatorcontrib>Kim, Dongsup</creatorcontrib><creatorcontrib>Jang, Sesong</creatorcontrib><creatorcontrib>Lee, Seung Bok</creatorcontrib><creatorcontrib>Yoo, Seung Keun</creatorcontrib><creatorcontrib>Shin, Jongyeon</creatorcontrib><creatorcontrib>Kim, Jong-il</creatorcontrib><creatorcontrib>Kim, Hunmin</creatorcontrib><creatorcontrib>Hwang, Hee</creatorcontrib><creatorcontrib>Chae, Jong-Hee</creatorcontrib><creatorcontrib>Choi, Jieun</creatorcontrib><creatorcontrib>Kim, Ki Joong</creatorcontrib><creatorcontrib>Lim, Byung Chan</creatorcontrib><title>FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy</title><title>Epilepsy research</title><addtitle>Epilepsy Res</addtitle><description>Highlights • We report 4 new cases of FARS2 mutation presenting with infantile-onset epilepsy. • Epilepsy phenotypes of 6 other reported FARS2 mutation-positive cases are reviewed. • FARS2 may be one of the genetic causes of early-onset epileptic encephalopathy.</description><subject>Brain - diagnostic imaging</subject><subject>Early-onset epileptic encephalopathy</subject><subject>Epilepsy - diagnostic imaging</subject><subject>Epilepsy - genetics</subject><subject>FARS2</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mitochondrial Proteins - metabolism</subject><subject>Mitochondrial tRNA synthetase</subject><subject>Molecular Dynamics Simulation</subject><subject>Mutation, Missense</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Phenylalanine-tRNA Ligase - genetics</subject><subject>Phenylalanine-tRNA Ligase - metabolism</subject><issn>0920-1211</issn><issn>1872-6844</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhi0EotvCX0A-cknq79gckEpFAakSEi0SNytxZrXeepNgO0X59zjsAhInTiONnnlH8wxCmJKaEqou9zVMAaa0REg1K52a0pow9gRtqG5YpbQQT9GGGEYqyig9Q-cp7QkhDRHiOTpjmghOFN2g-5urL3cMH-bcZj8OuB16DJP_Ff4GT2NKvguAgx8e8A-fdxjaGJZqHBLkE5i9wzA4mHZtGKc275YX6Nm2DQlenuoF-nrz_v76Y3X7-cOn66vbyglmcsU448I45bRy3VZKrWXfKUGhB-ANcYYSpWTPFddbCY00WndGSG6McIozwi_Q62PuFMfvM6RsDz45CKEdYJyTpVpKoqRqeEH1EXWx3BRha6foD21cLCV2dWr39q9Tuzq1lNritIy-Om2ZuwP0fwZ_SyzAuyMA5dZHD9Em51cjvY_gsu1H_z9b3v4T4op079rwAAuk_TjHobi01CZmib1bf7u-lipOuDTf-E8s-aHE</recordid><startdate>20170101</startdate><enddate>20170101</enddate><creator>Cho, Jae So</creator><creator>Kim, Seung Hyo</creator><creator>Kim, Ha Young</creator><creator>Chung, Taesu</creator><creator>Kim, Dongsup</creator><creator>Jang, Sesong</creator><creator>Lee, Seung Bok</creator><creator>Yoo, Seung Keun</creator><creator>Shin, Jongyeon</creator><creator>Kim, Jong-il</creator><creator>Kim, Hunmin</creator><creator>Hwang, Hee</creator><creator>Chae, Jong-Hee</creator><creator>Choi, Jieun</creator><creator>Kim, Ki Joong</creator><creator>Lim, Byung Chan</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>20170101</creationdate><title>FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy</title><author>Cho, Jae So ; Kim, Seung Hyo ; Kim, Ha Young ; Chung, Taesu ; Kim, Dongsup ; Jang, Sesong ; Lee, Seung Bok ; Yoo, Seung Keun ; Shin, Jongyeon ; Kim, Jong-il ; Kim, Hunmin ; Hwang, Hee ; Chae, Jong-Hee ; Choi, Jieun ; Kim, Ki Joong ; Lim, Byung Chan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c429t-232349c6c86cbf55885db641edee370c910665d3638f5e75988b9453994c63203</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Brain - diagnostic imaging</topic><topic>Early-onset epileptic encephalopathy</topic><topic>Epilepsy - diagnostic imaging</topic><topic>Epilepsy - genetics</topic><topic>FARS2</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mitochondrial Proteins - metabolism</topic><topic>Mitochondrial tRNA synthetase</topic><topic>Molecular Dynamics Simulation</topic><topic>Mutation, Missense</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>Phenylalanine-tRNA Ligase - genetics</topic><topic>Phenylalanine-tRNA Ligase - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cho, Jae So</creatorcontrib><creatorcontrib>Kim, Seung Hyo</creatorcontrib><creatorcontrib>Kim, Ha Young</creatorcontrib><creatorcontrib>Chung, Taesu</creatorcontrib><creatorcontrib>Kim, Dongsup</creatorcontrib><creatorcontrib>Jang, Sesong</creatorcontrib><creatorcontrib>Lee, Seung Bok</creatorcontrib><creatorcontrib>Yoo, Seung Keun</creatorcontrib><creatorcontrib>Shin, Jongyeon</creatorcontrib><creatorcontrib>Kim, Jong-il</creatorcontrib><creatorcontrib>Kim, Hunmin</creatorcontrib><creatorcontrib>Hwang, Hee</creatorcontrib><creatorcontrib>Chae, Jong-Hee</creatorcontrib><creatorcontrib>Choi, Jieun</creatorcontrib><creatorcontrib>Kim, Ki Joong</creatorcontrib><creatorcontrib>Lim, Byung Chan</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>Cho, Jae So</au><au>Kim, Seung Hyo</au><au>Kim, Ha Young</au><au>Chung, Taesu</au><au>Kim, Dongsup</au><au>Jang, Sesong</au><au>Lee, Seung Bok</au><au>Yoo, Seung Keun</au><au>Shin, Jongyeon</au><au>Kim, Jong-il</au><au>Kim, Hunmin</au><au>Hwang, Hee</au><au>Chae, Jong-Hee</au><au>Choi, Jieun</au><au>Kim, Ki Joong</au><au>Lim, Byung Chan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy</atitle><jtitle>Epilepsy research</jtitle><addtitle>Epilepsy Res</addtitle><date>2017-01-01</date><risdate>2017</risdate><volume>129</volume><spage>118</spage><epage>124</epage><pages>118-124</pages><issn>0920-1211</issn><eissn>1872-6844</eissn><abstract>Highlights • We report 4 new cases of FARS2 mutation presenting with infantile-onset epilepsy. • Epilepsy phenotypes of 6 other reported FARS2 mutation-positive cases are reviewed. • FARS2 may be one of the genetic causes of early-onset epileptic encephalopathy.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>28043061</pmid><doi>10.1016/j.eplepsyres.2016.11.022</doi><tpages>7</tpages></addata></record> |
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| subjects | Brain - diagnostic imaging Early-onset epileptic encephalopathy Epilepsy - diagnostic imaging Epilepsy - genetics FARS2 Female Humans Infant Male Mitochondrial Proteins - genetics Mitochondrial Proteins - metabolism Mitochondrial tRNA synthetase Molecular Dynamics Simulation Mutation, Missense Neurology Phenotype Phenylalanine-tRNA Ligase - genetics Phenylalanine-tRNA Ligase - metabolism |
| title | FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy |
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