Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies
Recently, the gene coding for the tandem pore domain K+‐channel TASK‐3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK‐3 is an interesting candidate g...
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| Veröffentlicht in: | American journal of medical genetics 2002-03, Vol.114 (2), p.227-229 |
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| container_title | American journal of medical genetics |
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| creator | Kananura, Colette Sander, Thomas Rajan, Sindhu Preisig-Müller, Regina Grzeschik, Karl-Heinz Daut, Jürgen Derst, Christian Steinlein, Ortrud K. |
| description | Recently, the gene coding for the tandem pore domain K+‐channel TASK‐3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK‐3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK‐3 gene in 65 patients with childhood and juvenile absence epilepsy. Only one silent nucleotide exchange (636C/T) was detected in exon 2 of the TASK‐3 coding region. No evidence for an allelic association was found between the exon 2 polymorphism and absence epilepsy. Accordingly, genetic variation of the TASK‐3 coding region does not play a major role in the etiology of idiopathic absence epilepsies. © 2002 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.10201 |
| format | Article |
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Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK‐3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK‐3 gene in 65 patients with childhood and juvenile absence epilepsy. Only one silent nucleotide exchange (636C/T) was detected in exon 2 of the TASK‐3 coding region. No evidence for an allelic association was found between the exon 2 polymorphism and absence epilepsy. Accordingly, genetic variation of the TASK‐3 coding region does not play a major role in the etiology of idiopathic absence epilepsies. © 2002 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.10201</identifier><identifier>PMID: 11857586</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>absence epilepsy ; Adolescent ; Biological and medical sciences ; Child ; DNA - chemistry ; DNA - genetics ; DNA Mutational Analysis ; Epilepsy, Absence - genetics ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; KCNK1 ; KCNK10 ; KCNK9 ; KCNQ3 ; Medical sciences ; Nervous system (semeiology, syndromes) ; Neurology ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational ; potassium channel ; Potassium Channels - genetics ; Potassium Channels, Tandem Pore Domain ; TASK-3 ; TASK-7</subject><ispartof>American journal of medical genetics, 2002-03, Vol.114 (2), p.227-229</ispartof><rights>Copyright © 2002 Wiley‐Liss, Inc.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2002 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3931-c89f50b236cbd012ff00cf068f28d291f45f89dcb9bc663cb350ba3ae6b90ea63</citedby><cites>FETCH-LOGICAL-c3931-c89f50b236cbd012ff00cf068f28d291f45f89dcb9bc663cb350ba3ae6b90ea63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13506793$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11857586$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kananura, Colette</creatorcontrib><creatorcontrib>Sander, Thomas</creatorcontrib><creatorcontrib>Rajan, Sindhu</creatorcontrib><creatorcontrib>Preisig-Müller, Regina</creatorcontrib><creatorcontrib>Grzeschik, Karl-Heinz</creatorcontrib><creatorcontrib>Daut, Jürgen</creatorcontrib><creatorcontrib>Derst, Christian</creatorcontrib><creatorcontrib>Steinlein, Ortrud K.</creatorcontrib><title>Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Recently, the gene coding for the tandem pore domain K+‐channel TASK‐3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK‐3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK‐3 gene in 65 patients with childhood and juvenile absence epilepsy. Only one silent nucleotide exchange (636C/T) was detected in exon 2 of the TASK‐3 coding region. No evidence for an allelic association was found between the exon 2 polymorphism and absence epilepsy. Accordingly, genetic variation of the TASK‐3 coding region does not play a major role in the etiology of idiopathic absence epilepsies. © 2002 Wiley‐Liss, Inc.</description><subject>absence epilepsy</subject><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Epilepsy, Absence - genetics</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>KCNK1</subject><subject>KCNK10</subject><subject>KCNK9</subject><subject>KCNQ3</subject><subject>Medical sciences</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>potassium channel</subject><subject>Potassium Channels - genetics</subject><subject>Potassium Channels, Tandem Pore Domain</subject><subject>TASK-3</subject><subject>TASK-7</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90EtPGzEQB3ALtYIUuPQDIF-K-tCCH1mvfQxRk5ZAEEpQERfL6x2Dw766TtTy7TEkwI3TWKPfzFh_hD5TckQJYcdmUd3GFyN0C_UoUSKRgskPqEdoXyYZU2oHfQphQQiNDbaNdiiVaZZK0UPTuakLqHDbdICLpjK-xpMfib0zdQ0lng9mk4Tjr5PhdKK-4WixL3zTmuWdt9jkAWoLGFpfQhs8hD300ZkywP6m7qKr0c_58FdydjH-PRycJZYrThMrlUtJzriweUEoc44Q64iQjsmCKer6qZOqsLnKrRDc5jxqww2IXBEwgu-iw_Xetmv-riAsdeWDhbI0NTSroDPaz4jqpxF-X0PbNSF04HTb-cp0D5oS_ZSefkpPP6cX8cFm6yqvoHijm7gi-LIBJlhTus7U1oc3F78pMsWjo2v3Lwbz8M5JPTg9H78cT9YzPizh_-uM6e61yHiW6j_TsR7dXJ7MRvOZvuaPNrWUVg</recordid><startdate>20020308</startdate><enddate>20020308</enddate><creator>Kananura, Colette</creator><creator>Sander, Thomas</creator><creator>Rajan, Sindhu</creator><creator>Preisig-Müller, Regina</creator><creator>Grzeschik, Karl-Heinz</creator><creator>Daut, Jürgen</creator><creator>Derst, Christian</creator><creator>Steinlein, Ortrud K.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><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>20020308</creationdate><title>Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies</title><author>Kananura, Colette ; Sander, Thomas ; Rajan, Sindhu ; Preisig-Müller, Regina ; Grzeschik, Karl-Heinz ; Daut, Jürgen ; Derst, Christian ; Steinlein, Ortrud K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3931-c89f50b236cbd012ff00cf068f28d291f45f89dcb9bc663cb350ba3ae6b90ea63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>absence epilepsy</topic><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Epilepsy, Absence - genetics</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>KCNK1</topic><topic>KCNK10</topic><topic>KCNK9</topic><topic>KCNQ3</topic><topic>Medical sciences</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>potassium channel</topic><topic>Potassium Channels - genetics</topic><topic>Potassium Channels, Tandem Pore Domain</topic><topic>TASK-3</topic><topic>TASK-7</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kananura, Colette</creatorcontrib><creatorcontrib>Sander, Thomas</creatorcontrib><creatorcontrib>Rajan, Sindhu</creatorcontrib><creatorcontrib>Preisig-Müller, Regina</creatorcontrib><creatorcontrib>Grzeschik, Karl-Heinz</creatorcontrib><creatorcontrib>Daut, Jürgen</creatorcontrib><creatorcontrib>Derst, Christian</creatorcontrib><creatorcontrib>Steinlein, Ortrud K.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><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>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kananura, Colette</au><au>Sander, Thomas</au><au>Rajan, Sindhu</au><au>Preisig-Müller, Regina</au><au>Grzeschik, Karl-Heinz</au><au>Daut, Jürgen</au><au>Derst, Christian</au><au>Steinlein, Ortrud K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2002-03-08</date><risdate>2002</risdate><volume>114</volume><issue>2</issue><spage>227</spage><epage>229</epage><pages>227-229</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Recently, the gene coding for the tandem pore domain K+‐channel TASK‐3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK‐3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK‐3 gene in 65 patients with childhood and juvenile absence epilepsy. Only one silent nucleotide exchange (636C/T) was detected in exon 2 of the TASK‐3 coding region. No evidence for an allelic association was found between the exon 2 polymorphism and absence epilepsy. Accordingly, genetic variation of the TASK‐3 coding region does not play a major role in the etiology of idiopathic absence epilepsies. © 2002 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>11857586</pmid><doi>10.1002/ajmg.10201</doi><tpages>3</tpages></addata></record> |
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| subjects | absence epilepsy Adolescent Biological and medical sciences Child DNA - chemistry DNA - genetics DNA Mutational Analysis Epilepsy, Absence - genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans KCNK1 KCNK10 KCNK9 KCNQ3 Medical sciences Nervous system (semeiology, syndromes) Neurology Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational potassium channel Potassium Channels - genetics Potassium Channels, Tandem Pore Domain TASK-3 TASK-7 |
| title | Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies |
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