Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep
Electrical status epilepticus in sleep syndrome is the association of the electroencephalographic pattern and deficits in language or global cognitive function and behavioral problems. The etiology is often unknown, but genetic risk factors have been implicated. Array-based comparative genomic hybri...
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| Veröffentlicht in: | Journal of Child Neurology 2012-02, Vol.27 (2), p.178-182 |
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| container_title | Journal of Child Neurology |
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| creator | Kevelam, Sietske H.G. Jansen, Floor E. Binsbergen, Ellen van Braun, Kees P.J. Verbeek, Nienke E. Lindhout, Dick Poot, Martin Brilstra, Eva H. |
| description | Electrical status epilepticus in sleep syndrome is the association of the electroencephalographic pattern and deficits in language or global cognitive function and behavioral problems. The etiology is often unknown, but genetic risk factors have been implicated. Array-based comparative genomic hybridization was used to identify copy number variations in 13 children with electrical status epilepticus in sleep syndrome to identify possible underlying risk factors. Seven copy number variations were detected in 4 of the 13 patients, which consisted of 6 novel gains and 1 loss, the recurrent 15q13.3 microdeletion. Two patients carried a probable pathogenic copy number variation containing a gene involved in the cholinergic pathway. Genetic aberrations in patients with electrical status epilepticus in sleep syndrome can provide an entry in the investigation of the etiology of electrical status epilepticus in sleep. However, further studies are needed to confirm our findings. |
| doi_str_mv | 10.1177/0883073811416006 |
| format | Article |
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The etiology is often unknown, but genetic risk factors have been implicated. Array-based comparative genomic hybridization was used to identify copy number variations in 13 children with electrical status epilepticus in sleep syndrome to identify possible underlying risk factors. Seven copy number variations were detected in 4 of the 13 patients, which consisted of 6 novel gains and 1 loss, the recurrent 15q13.3 microdeletion. Two patients carried a probable pathogenic copy number variation containing a gene involved in the cholinergic pathway. Genetic aberrations in patients with electrical status epilepticus in sleep syndrome can provide an entry in the investigation of the etiology of electrical status epilepticus in sleep. However, further studies are needed to confirm our findings.</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/0883073811416006</identifier><identifier>PMID: 21954431</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Child Language ; Child, Preschool ; DNA Copy Number Variations ; Electroencephalography ; Genetic Predisposition to Disease ; Humans ; Sleep - genetics ; Status Epilepticus - genetics ; Status Epilepticus - physiopathology</subject><ispartof>Journal of Child Neurology, 2012-02, Vol.27 (2), p.178-182</ispartof><rights>SAGE Publications 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c368t-b20c96594e804d6dae331c93768facb6ba17449f5f47d9f7e7962ce0afd3f95c3</citedby><cites>FETCH-LOGICAL-c368t-b20c96594e804d6dae331c93768facb6ba17449f5f47d9f7e7962ce0afd3f95c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/0883073811416006$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/0883073811416006$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>313,314,776,780,788,21798,27899,27901,27902,43597,43598</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21954431$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kevelam, Sietske H.G.</creatorcontrib><creatorcontrib>Jansen, Floor E.</creatorcontrib><creatorcontrib>Binsbergen, Ellen van</creatorcontrib><creatorcontrib>Braun, Kees P.J.</creatorcontrib><creatorcontrib>Verbeek, Nienke E.</creatorcontrib><creatorcontrib>Lindhout, Dick</creatorcontrib><creatorcontrib>Poot, Martin</creatorcontrib><creatorcontrib>Brilstra, Eva H.</creatorcontrib><title>Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep</title><title>Journal of Child Neurology</title><addtitle>J Child Neurol</addtitle><description>Electrical status epilepticus in sleep syndrome is the association of the electroencephalographic pattern and deficits in language or global cognitive function and behavioral problems. The etiology is often unknown, but genetic risk factors have been implicated. Array-based comparative genomic hybridization was used to identify copy number variations in 13 children with electrical status epilepticus in sleep syndrome to identify possible underlying risk factors. Seven copy number variations were detected in 4 of the 13 patients, which consisted of 6 novel gains and 1 loss, the recurrent 15q13.3 microdeletion. Two patients carried a probable pathogenic copy number variation containing a gene involved in the cholinergic pathway. Genetic aberrations in patients with electrical status epilepticus in sleep syndrome can provide an entry in the investigation of the etiology of electrical status epilepticus in sleep. However, further studies are needed to confirm our findings.</description><subject>Child Language</subject><subject>Child, Preschool</subject><subject>DNA Copy Number Variations</subject><subject>Electroencephalography</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Sleep - genetics</subject><subject>Status Epilepticus - genetics</subject><subject>Status Epilepticus - physiopathology</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkDtPwzAURi0EoqWwMyFvTAE7dvwYUVUeEipI5TFGjnMDrtIk2M7Qf09KCwMSEtO90j3fd6WD0CklF5RKeUmUYkQyRSmnghCxh8ZUEpWoVLF9NN6ck819hI5CWBJCVKbJIRqlVGecMzpG82nbrfG8XxXg8YvxzkTXNgG7Bj8OKzQx4FcX3_GsBhu9s6bGi2hiH_CsczV00dn-C1_UAN0xOqhMHeBkNyfo-Xr2NL1N7h9u7qZX94llQsWkSInVItMcFOGlKA0wRq1mUqjK2EIUhkrOdZVVXJa6kiC1SC0QU5Ws0pllE3S-7e18-9FDiPnKBQt1bRpo-5DrVCiVpYz8g0xlJod3A0m2pPVtCB6qvPNuZfw6pyTf6M5_6x4iZ7vyvlhB-RP49jsAyRYI5g3yZdv7ZtDyd-EnTCiGwA</recordid><startdate>201202</startdate><enddate>201202</enddate><creator>Kevelam, Sietske H.G.</creator><creator>Jansen, Floor E.</creator><creator>Binsbergen, Ellen van</creator><creator>Braun, Kees P.J.</creator><creator>Verbeek, Nienke E.</creator><creator>Lindhout, Dick</creator><creator>Poot, Martin</creator><creator>Brilstra, Eva H.</creator><general>SAGE Publications</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><scope>7TK</scope></search><sort><creationdate>201202</creationdate><title>Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep</title><author>Kevelam, Sietske H.G. ; Jansen, Floor E. ; Binsbergen, Ellen van ; Braun, Kees P.J. ; Verbeek, Nienke E. ; Lindhout, Dick ; Poot, Martin ; Brilstra, Eva H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c368t-b20c96594e804d6dae331c93768facb6ba17449f5f47d9f7e7962ce0afd3f95c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Child Language</topic><topic>Child, Preschool</topic><topic>DNA Copy Number Variations</topic><topic>Electroencephalography</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Sleep - genetics</topic><topic>Status Epilepticus - genetics</topic><topic>Status Epilepticus - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kevelam, Sietske H.G.</creatorcontrib><creatorcontrib>Jansen, Floor E.</creatorcontrib><creatorcontrib>Binsbergen, Ellen van</creatorcontrib><creatorcontrib>Braun, Kees P.J.</creatorcontrib><creatorcontrib>Verbeek, Nienke E.</creatorcontrib><creatorcontrib>Lindhout, Dick</creatorcontrib><creatorcontrib>Poot, Martin</creatorcontrib><creatorcontrib>Brilstra, Eva H.</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><collection>Neurosciences Abstracts</collection><jtitle>Journal of Child Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kevelam, Sietske H.G.</au><au>Jansen, Floor E.</au><au>Binsbergen, Ellen van</au><au>Braun, Kees P.J.</au><au>Verbeek, Nienke E.</au><au>Lindhout, Dick</au><au>Poot, Martin</au><au>Brilstra, Eva H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep</atitle><jtitle>Journal of Child Neurology</jtitle><addtitle>J Child Neurol</addtitle><date>2012-02</date><risdate>2012</risdate><volume>27</volume><issue>2</issue><spage>178</spage><epage>182</epage><pages>178-182</pages><issn>0883-0738</issn><eissn>1708-8283</eissn><abstract>Electrical status epilepticus in sleep syndrome is the association of the electroencephalographic pattern and deficits in language or global cognitive function and behavioral problems. 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| subjects | Child Language Child, Preschool DNA Copy Number Variations Electroencephalography Genetic Predisposition to Disease Humans Sleep - genetics Status Epilepticus - genetics Status Epilepticus - physiopathology |
| title | Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep |
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