A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family
Highlights • A consanguineous family from Turkey with two children resembling Dravet syndrome. • Implementation of a combined analysis of exome sequencing and SNP genotyping. • Two SCN1A variants detected; a mosaic clinical variant coinherited with a novel one. • Presence of both consanguinity and m...
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| Veröffentlicht in: | Epilepsy research 2015-07, Vol.113, p.5-10 |
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| container_title | Epilepsy research |
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| creator | Tuncer, Feyza N Gormez, Zeliha Calik, Mustafa Altiokka Uzun, Gunes Sagiroglu, Mahmut S Yuceturk, Betul Yuksel, Bayram Baykan, Betul Bebek, Nerses Iscan, Akin Ugur Iseri, Sibel A Ozbek, Ugur |
| description | Highlights • A consanguineous family from Turkey with two children resembling Dravet syndrome. • Implementation of a combined analysis of exome sequencing and SNP genotyping. • Two SCN1A variants detected; a mosaic clinical variant coinherited with a novel one. • Presence of both consanguinity and mosaicism complicate inheritance pattern. • Heterozygous variants spotted in the family aid diagnosis and genetic counseling. |
| doi_str_mv | 10.1016/j.eplepsyres.2015.02.020 |
| format | Article |
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All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c344t-8c3b7969e92fcb9e9a127ef92864d0da0f07d21844f5c7ad98730642da7beba63</citedby><cites>FETCH-LOGICAL-c344t-8c3b7969e92fcb9e9a127ef92864d0da0f07d21844f5c7ad98730642da7beba63</cites><orcidid>0000-0001-9519-2647</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.eplepsyres.2015.02.020$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25986186$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tuncer, Feyza N</creatorcontrib><creatorcontrib>Gormez, Zeliha</creatorcontrib><creatorcontrib>Calik, Mustafa</creatorcontrib><creatorcontrib>Altiokka Uzun, Gunes</creatorcontrib><creatorcontrib>Sagiroglu, Mahmut S</creatorcontrib><creatorcontrib>Yuceturk, Betul</creatorcontrib><creatorcontrib>Yuksel, Bayram</creatorcontrib><creatorcontrib>Baykan, Betul</creatorcontrib><creatorcontrib>Bebek, Nerses</creatorcontrib><creatorcontrib>Iscan, Akin</creatorcontrib><creatorcontrib>Ugur Iseri, Sibel A</creatorcontrib><creatorcontrib>Ozbek, Ugur</creatorcontrib><title>A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family</title><title>Epilepsy research</title><addtitle>Epilepsy Res</addtitle><description>Highlights • A consanguineous family from Turkey with two children resembling Dravet syndrome. • Implementation of a combined analysis of exome sequencing and SNP genotyping. • Two SCN1A variants detected; 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Gormez, Zeliha ; Calik, Mustafa ; Altiokka Uzun, Gunes ; Sagiroglu, Mahmut S ; Yuceturk, Betul ; Yuksel, Bayram ; Baykan, Betul ; Bebek, Nerses ; Iscan, Akin ; Ugur Iseri, Sibel A ; Ozbek, Ugur</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c344t-8c3b7969e92fcb9e9a127ef92864d0da0f07d21844f5c7ad98730642da7beba63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Child</topic><topic>Compound heterozygosity</topic><topic>Consanguinity</topic><topic>DNA Mutational Analysis</topic><topic>Dravet syndrome</topic><topic>Electroencephalography</topic><topic>Epilepsies, Myoclonic - genetics</topic><topic>Epilepsies, Myoclonic - physiopathology</topic><topic>Exome sequencing</topic><topic>Exons</topic><topic>Family Health</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Models, Molecular</topic><topic>Mosaicism</topic><topic>NAV1.1 Voltage-Gated Sodium Channel - genetics</topic><topic>Neurology</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>SCN1A</topic><topic>Turkey</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tuncer, Feyza N</creatorcontrib><creatorcontrib>Gormez, Zeliha</creatorcontrib><creatorcontrib>Calik, Mustafa</creatorcontrib><creatorcontrib>Altiokka Uzun, Gunes</creatorcontrib><creatorcontrib>Sagiroglu, Mahmut S</creatorcontrib><creatorcontrib>Yuceturk, Betul</creatorcontrib><creatorcontrib>Yuksel, Bayram</creatorcontrib><creatorcontrib>Baykan, Betul</creatorcontrib><creatorcontrib>Bebek, Nerses</creatorcontrib><creatorcontrib>Iscan, Akin</creatorcontrib><creatorcontrib>Ugur Iseri, Sibel A</creatorcontrib><creatorcontrib>Ozbek, Ugur</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>Tuncer, Feyza N</au><au>Gormez, Zeliha</au><au>Calik, Mustafa</au><au>Altiokka Uzun, Gunes</au><au>Sagiroglu, Mahmut S</au><au>Yuceturk, Betul</au><au>Yuksel, Bayram</au><au>Baykan, Betul</au><au>Bebek, Nerses</au><au>Iscan, Akin</au><au>Ugur Iseri, Sibel A</au><au>Ozbek, Ugur</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family</atitle><jtitle>Epilepsy research</jtitle><addtitle>Epilepsy Res</addtitle><date>2015-07-01</date><risdate>2015</risdate><volume>113</volume><spage>5</spage><epage>10</epage><pages>5-10</pages><issn>0920-1211</issn><eissn>1872-6844</eissn><abstract>Highlights • A consanguineous family from Turkey with two children resembling Dravet syndrome. • Implementation of a combined analysis of exome sequencing and SNP genotyping. • Two SCN1A variants detected; 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| subjects | Child Compound heterozygosity Consanguinity DNA Mutational Analysis Dravet syndrome Electroencephalography Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Exome sequencing Exons Family Health Female Humans Male Models, Molecular Mosaicism NAV1.1 Voltage-Gated Sodium Channel - genetics Neurology Polymorphism, Single Nucleotide - genetics SCN1A Turkey |
| title | A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family |
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