Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP

Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2017-12, Vol.12 (12), p.e0189618-e0189618
Main Authors: Coll, Monica, Striano, Pasquale, Ferrer-Costa, Carles, Campuzano, Oscar, Matés, Jesús, Del Olmo, Bernat, Iglesias, Anna, Pérez-Serra, Alexandra, Mademont, Irene, Picó, Ferran, Oliva, Antonio, Brugada, Ramon
Format: Article
Language:English
Subjects:
Autopsies
Autopsy
Biology
Biology and Life Sciences
Brain
Cardiac arrhythmia
Conduction
Copy number
Death
Diagnosis
DNA sequencing
Drownings
Epilepsy
Evaluation
Genes
Genetic aspects
Genetic factors
Genetics
Genomics
Heart
Heart diseases
Hospitals
In vivo methods and tests
Ion channels
KCNQ1 protein
Legal medicine
Long QT syndrome
Maternal & child health
Medicine and Health Sciences
Mortality
Mutation
Patients
Physical Sciences
Potassium channels (voltage-gated)
Research and analysis methods
Studies
Sudden death
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3
cites cdi_FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3
container_end_page e0189618
container_issue 12
container_start_page e0189618
container_title PloS one
container_volume 12
creator Coll, Monica
Striano, Pasquale
Ferrer-Costa, Carles
Campuzano, Oscar
Matés, Jesús
Del Olmo, Bernat
Iglesias, Anna
Pérez-Serra, Alexandra
Mademont, Irene
Picó, Ferran
Oliva, Antonio
Brugada, Ramon
description Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.
doi_str_mv 10.1371/journal.pone.0189618
format article
fullrecord <record><control><sourceid>gale_plos_</sourceid><recordid>TN_cdi_plos_journals_1978703591</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A519523341</galeid><doaj_id>oai_doaj_org_article_fd92638945174c5d88233145cb92e4b4</doaj_id><sourcerecordid>A519523341</sourcerecordid><originalsourceid>FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3</originalsourceid><addsrcrecordid>eNqNk1Fv0zAUhSMEYmPwDxBEQkLw0M6OYyd5QZrGgEqThtjGq-XaN6kr187spGL_HqfNpgbtAeUhlvOdc-NzfZPkLUZzTAp8una9t8LMW2dhjnBZMVw-S45xRbIZyxB5frA-Sl6FsEaIkpKxl8lRVmUMF5gcJ9sb4RvoQKUW_nSzBix40Wln0wB3PVipbZO23m21gpBatwWTStPHde18KkJwUotBDq020Ib7VFiVSuGVFjKVzqpe7uyUDs4r8KfXt18vfr5OXtTCBHgzvk-S228XN-c_ZpdX3xfnZ5czyaqsm1USK8mWBaYCUSaEVIywJRWUZUrGFEpUL1FRZiQnhJSiLLFCAiGArJKqgpqcJO_3vq1xgY-RBY6roiwQoRWOxGJPKCfWvPV6I_w9d0Lz3YbzDRe-09IAr1WMjZRVTnGRS6rKWJjgnMpllUG-zKPXl7Fav9yAkmA7L8zEdPrF6hVv3JbTgrDYrGjwaTTwLqYfOr7RQYIxwoLrd_9d0SyjRRbRD_-gT59upBoRD6Bt7WJdOZjyM4qjFyH5QM2foOKjYKNjD6GOvZ0KPk8Ekeni9WlEHwJfXP_6f_bq95T9eMCuQJhuFZzphxsUpmC-B6V3IXioH0PGiA_j8ZAGH8aDj-MRZe8OG_QoepgH8hf_5Qse</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1978703591</pqid></control><display><type>article</type><title>Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP</title><source>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</source><source>NCBI_PubMed Central（免费）</source><creator>Coll, Monica ; Striano, Pasquale ; Ferrer-Costa, Carles ; Campuzano, Oscar ; Matés, Jesús ; Del Olmo, Bernat ; Iglesias, Anna ; Pérez-Serra, Alexandra ; Mademont, Irene ; Picó, Ferran ; Oliva, Antonio ; Brugada, Ramon</creator><contributor>Ai, Tomohiko</contributor><creatorcontrib>Coll, Monica ; Striano, Pasquale ; Ferrer-Costa, Carles ; Campuzano, Oscar ; Matés, Jesús ; Del Olmo, Bernat ; Iglesias, Anna ; Pérez-Serra, Alexandra ; Mademont, Irene ; Picó, Ferran ; Oliva, Antonio ; Brugada, Ramon ; Ai, Tomohiko</creatorcontrib><description>Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0189618</identifier><identifier>PMID: 29261713</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Autopsies ; Autopsy ; Biology ; Biology and Life Sciences ; Brain ; Cardiac arrhythmia ; Conduction ; Copy number ; Death ; Diagnosis ; DNA sequencing ; Drownings ; Epilepsy ; Evaluation ; Genes ; Genetic aspects ; Genetic factors ; Genetics ; Genomics ; Heart ; Heart diseases ; Hospitals ; In vivo methods and tests ; Ion channels ; KCNQ1 protein ; Legal medicine ; Long QT syndrome ; Maternal &amp; child health ; Medicine and Health Sciences ; Mortality ; Mutation ; Patients ; Physical Sciences ; Potassium channels (voltage-gated) ; Research and analysis methods ; Studies ; Sudden death</subject><ispartof>PloS one, 2017-12, Vol.12 (12), p.e0189618-e0189618</ispartof><rights>COPYRIGHT 2017 Public Library of Science</rights><rights>2017 Coll et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2017 Coll et al 2017 Coll et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3</citedby><cites>FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3</cites><orcidid>0000-0002-3822-745X ; 0000-0003-1214-803X ; 0000-0001-5298-5276</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/1978703591/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1978703591?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29261713$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Ai, Tomohiko</contributor><creatorcontrib>Coll, Monica</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Ferrer-Costa, Carles</creatorcontrib><creatorcontrib>Campuzano, Oscar</creatorcontrib><creatorcontrib>Matés, Jesús</creatorcontrib><creatorcontrib>Del Olmo, Bernat</creatorcontrib><creatorcontrib>Iglesias, Anna</creatorcontrib><creatorcontrib>Pérez-Serra, Alexandra</creatorcontrib><creatorcontrib>Mademont, Irene</creatorcontrib><creatorcontrib>Picó, Ferran</creatorcontrib><creatorcontrib>Oliva, Antonio</creatorcontrib><creatorcontrib>Brugada, Ramon</creatorcontrib><title>Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.</description><subject>Autopsies</subject><subject>Autopsy</subject><subject>Biology</subject><subject>Biology and Life Sciences</subject><subject>Brain</subject><subject>Cardiac arrhythmia</subject><subject>Conduction</subject><subject>Copy number</subject><subject>Death</subject><subject>Diagnosis</subject><subject>DNA sequencing</subject><subject>Drownings</subject><subject>Epilepsy</subject><subject>Evaluation</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic factors</subject><subject>Genetics</subject><subject>Genomics</subject><subject>Heart</subject><subject>Heart diseases</subject><subject>Hospitals</subject><subject>In vivo methods and tests</subject><subject>Ion channels</subject><subject>KCNQ1 protein</subject><subject>Legal medicine</subject><subject>Long QT syndrome</subject><subject>Maternal &amp; child health</subject><subject>Medicine and Health Sciences</subject><subject>Mortality</subject><subject>Mutation</subject><subject>Patients</subject><subject>Physical Sciences</subject><subject>Potassium channels (voltage-gated)</subject><subject>Research and analysis methods</subject><subject>Studies</subject><subject>Sudden death</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNqNk1Fv0zAUhSMEYmPwDxBEQkLw0M6OYyd5QZrGgEqThtjGq-XaN6kr187spGL_HqfNpgbtAeUhlvOdc-NzfZPkLUZzTAp8una9t8LMW2dhjnBZMVw-S45xRbIZyxB5frA-Sl6FsEaIkpKxl8lRVmUMF5gcJ9sb4RvoQKUW_nSzBix40Wln0wB3PVipbZO23m21gpBatwWTStPHde18KkJwUotBDq020Ib7VFiVSuGVFjKVzqpe7uyUDs4r8KfXt18vfr5OXtTCBHgzvk-S228XN-c_ZpdX3xfnZ5czyaqsm1USK8mWBaYCUSaEVIywJRWUZUrGFEpUL1FRZiQnhJSiLLFCAiGArJKqgpqcJO_3vq1xgY-RBY6roiwQoRWOxGJPKCfWvPV6I_w9d0Lz3YbzDRe-09IAr1WMjZRVTnGRS6rKWJjgnMpllUG-zKPXl7Fav9yAkmA7L8zEdPrF6hVv3JbTgrDYrGjwaTTwLqYfOr7RQYIxwoLrd_9d0SyjRRbRD_-gT59upBoRD6Bt7WJdOZjyM4qjFyH5QM2foOKjYKNjD6GOvZ0KPk8Ekeni9WlEHwJfXP_6f_bq95T9eMCuQJhuFZzphxsUpmC-B6V3IXioH0PGiA_j8ZAGH8aDj-MRZe8OG_QoepgH8hf_5Qse</recordid><startdate>20171219</startdate><enddate>20171219</enddate><creator>Coll, Monica</creator><creator>Striano, Pasquale</creator><creator>Ferrer-Costa, Carles</creator><creator>Campuzano, Oscar</creator><creator>Matés, Jesús</creator><creator>Del Olmo, Bernat</creator><creator>Iglesias, Anna</creator><creator>Pérez-Serra, Alexandra</creator><creator>Mademont, Irene</creator><creator>Picó, Ferran</creator><creator>Oliva, Antonio</creator><creator>Brugada, Ramon</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-3822-745X</orcidid><orcidid>https://orcid.org/0000-0003-1214-803X</orcidid><orcidid>https://orcid.org/0000-0001-5298-5276</orcidid></search><sort><creationdate>20171219</creationdate><title>Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP</title><author>Coll, Monica ; Striano, Pasquale ; Ferrer-Costa, Carles ; Campuzano, Oscar ; Matés, Jesús ; Del Olmo, Bernat ; Iglesias, Anna ; Pérez-Serra, Alexandra ; Mademont, Irene ; Picó, Ferran ; Oliva, Antonio ; Brugada, Ramon</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Autopsies</topic><topic>Autopsy</topic><topic>Biology</topic><topic>Biology and Life Sciences</topic><topic>Brain</topic><topic>Cardiac arrhythmia</topic><topic>Conduction</topic><topic>Copy number</topic><topic>Death</topic><topic>Diagnosis</topic><topic>DNA sequencing</topic><topic>Drownings</topic><topic>Epilepsy</topic><topic>Evaluation</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic factors</topic><topic>Genetics</topic><topic>Genomics</topic><topic>Heart</topic><topic>Heart diseases</topic><topic>Hospitals</topic><topic>In vivo methods and tests</topic><topic>Ion channels</topic><topic>KCNQ1 protein</topic><topic>Legal medicine</topic><topic>Long QT syndrome</topic><topic>Maternal &amp; child health</topic><topic>Medicine and Health Sciences</topic><topic>Mortality</topic><topic>Mutation</topic><topic>Patients</topic><topic>Physical Sciences</topic><topic>Potassium channels (voltage-gated)</topic><topic>Research and analysis methods</topic><topic>Studies</topic><topic>Sudden death</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Coll, Monica</creatorcontrib><creatorcontrib>Striano, Pasquale</creatorcontrib><creatorcontrib>Ferrer-Costa, Carles</creatorcontrib><creatorcontrib>Campuzano, Oscar</creatorcontrib><creatorcontrib>Matés, Jesús</creatorcontrib><creatorcontrib>Del Olmo, Bernat</creatorcontrib><creatorcontrib>Iglesias, Anna</creatorcontrib><creatorcontrib>Pérez-Serra, Alexandra</creatorcontrib><creatorcontrib>Mademont, Irene</creatorcontrib><creatorcontrib>Picó, Ferran</creatorcontrib><creatorcontrib>Oliva, Antonio</creatorcontrib><creatorcontrib>Brugada, Ramon</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale_Opposing Viewpoints In Context</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>ProQuest Nursing and Allied Health Journals</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological &amp; Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>ProQuest_Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science &amp; Engineering Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>Advanced Technologies &amp; Aerospace Collection</collection><collection>Agricultural &amp; Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>https://resources.nclive.org/materials</collection><collection>Nursing &amp; Allied Health Database (Alumni Edition)</collection><collection>Meteorological &amp; Geoastrophysical Abstracts - Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agriculture Science Database</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing &amp; Allied Health Premium</collection><collection>Advanced Technologies &amp; Aerospace Database</collection><collection>ProQuest Advanced Technologies &amp; Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials Science Collection</collection><collection>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Coll, Monica</au><au>Striano, Pasquale</au><au>Ferrer-Costa, Carles</au><au>Campuzano, Oscar</au><au>Matés, Jesús</au><au>Del Olmo, Bernat</au><au>Iglesias, Anna</au><au>Pérez-Serra, Alexandra</au><au>Mademont, Irene</au><au>Picó, Ferran</au><au>Oliva, Antonio</au><au>Brugada, Ramon</au><au>Ai, Tomohiko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2017-12-19</date><risdate>2017</risdate><volume>12</volume><issue>12</issue><spage>e0189618</spage><epage>e0189618</epage><pages>e0189618-e0189618</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>29261713</pmid><doi>10.1371/journal.pone.0189618</doi><tpages>e0189618</tpages><orcidid>https://orcid.org/0000-0002-3822-745X</orcidid><orcidid>https://orcid.org/0000-0003-1214-803X</orcidid><orcidid>https://orcid.org/0000-0001-5298-5276</orcidid><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1932-6203
ispartof PloS one, 2017-12, Vol.12 (12), p.e0189618-e0189618
issn 1932-6203
1932-6203
language eng
recordid cdi_plos_journals_1978703591
source Publicly Available Content Database (Proquest) (PQ_SDU_P3); NCBI_PubMed Central（免费）
subjects Autopsies
Autopsy
Biology
Biology and Life Sciences
Brain
Cardiac arrhythmia
Conduction
Copy number
Death
Diagnosis
DNA sequencing
Drownings
Epilepsy
Evaluation
Genes
Genetic aspects
Genetic factors
Genetics
Genomics
Heart
Heart diseases
Hospitals
In vivo methods and tests
Ion channels
KCNQ1 protein
Legal medicine
Long QT syndrome
Maternal & child health
Medicine and Health Sciences
Mortality
Mutation
Patients
Physical Sciences
Potassium channels (voltage-gated)
Research and analysis methods
Studies
Sudden death
title Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T08%3A41%3A10IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Targeted%20next-generation%20sequencing%20provides%20novel%20clues%20for%20associated%20epilepsy%20and%20cardiac%20conduction%20disorder/SUDEP&rft.jtitle=PloS%20one&rft.au=Coll,%20Monica&rft.date=2017-12-19&rft.volume=12&rft.issue=12&rft.spage=e0189618&rft.epage=e0189618&rft.pages=e0189618-e0189618&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0189618&rft_dat=%3Cgale_plos_%3EA519523341%3C/gale_plos_%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c692t-9c1dc6b715a056aacd636b5a562dc13780fb0782343338a881d0a00ee29cd9ef3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1978703591&rft_id=info:pmid/29261713&rft_galeid=A519523341&rfr_iscdi=true