CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood
Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlappi...
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| Veröffentlicht in: | Cephalalgia 2008-08, Vol.28 (8), p.887-891 |
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| container_title | Cephalalgia |
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| creator | de Vries, B Stam, AH Beker, F van den Maagdenberg, AMJM Vanmolkot, KRJ Laan, LAEM Ginjaar, IB Frants, RR Lauffer, H Haan, J Haas, JP Terwindt, GM Ferrari, MD |
| description | Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia. |
| doi_str_mv | 10.1111/j.1468-2982.2008.01596.x |
| format | Article |
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Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. 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Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.</description><subject>Adolescent</subject><subject>AHC</subject><subject>CACNA1A</subject><subject>Calcium Channels - genetics</subject><subject>Genetic Linkage</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Hemiplegia - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Migraine Disorders - genetics</subject><subject>Mutation</subject><subject>Twins, Monozygotic - genetics</subject><issn>0333-1024</issn><issn>1468-2982</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkctOwzAQRS0EgvL4BeQVu4RxHBt7gxRFQJHKYwFraxo7xSVNStyI8vcktAJ24M1Y8pk71hlCKIOY9ed8HrNUqijRKokTABUDE1rG6x0y-n7YJSPgnEcMkvSAHIYwBwAhQe6TA6ZSrbjmI_KUZ_l9xjJ6161w5ZuaTnz96usZHbuFX1Zu5gt652ct-tpRrC3NqpVr6579zSBtSpq_-Mq-NI09JnslVsGdbOsReb6-esrH0eTh5jbPJlGRaiEjxlPLUKoLJUo7nZYCJdhE8xJBpYBSC4aIwhaynKoiFY5ZZ4sCNbokgQvBj8jZJnfZNm-dCyuz8KFwVYW1a7pgpOZCcvE3yLQEAUz3oNqARduE0LrSLFu_wPbDMDCDejM3g2EzGDaDevOl3qz71tPtjG66cPanceu6By43wLuv3Me_g01-9Tgern2A2AQEnDkzb7p-DVX4-2efhByiFw</recordid><startdate>200808</startdate><enddate>200808</enddate><creator>de Vries, B</creator><creator>Stam, AH</creator><creator>Beker, F</creator><creator>van den Maagdenberg, AMJM</creator><creator>Vanmolkot, KRJ</creator><creator>Laan, LAEM</creator><creator>Ginjaar, IB</creator><creator>Frants, RR</creator><creator>Lauffer, H</creator><creator>Haan, J</creator><creator>Haas, JP</creator><creator>Terwindt, GM</creator><creator>Ferrari, MD</creator><general>SAGE Publications</general><general>Blackwell Publishing Ltd</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200808</creationdate><title>CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood</title><author>de Vries, B ; Stam, AH ; Beker, F ; van den Maagdenberg, AMJM ; Vanmolkot, KRJ ; Laan, LAEM ; Ginjaar, IB ; Frants, RR ; Lauffer, H ; Haan, J ; Haas, JP ; Terwindt, GM ; Ferrari, MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4956-134d1a68785fdbbf5a60d293fa0840a6951aaa5dc6fb8c45e1dedcca9ae220753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>AHC</topic><topic>CACNA1A</topic><topic>Calcium Channels - genetics</topic><topic>Genetic Linkage</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Hemiplegia - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Migraine Disorders - genetics</topic><topic>Mutation</topic><topic>Twins, Monozygotic - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Vries, B</creatorcontrib><creatorcontrib>Stam, AH</creatorcontrib><creatorcontrib>Beker, F</creatorcontrib><creatorcontrib>van den Maagdenberg, AMJM</creatorcontrib><creatorcontrib>Vanmolkot, KRJ</creatorcontrib><creatorcontrib>Laan, LAEM</creatorcontrib><creatorcontrib>Ginjaar, IB</creatorcontrib><creatorcontrib>Frants, RR</creatorcontrib><creatorcontrib>Lauffer, H</creatorcontrib><creatorcontrib>Haan, J</creatorcontrib><creatorcontrib>Haas, JP</creatorcontrib><creatorcontrib>Terwindt, GM</creatorcontrib><creatorcontrib>Ferrari, MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cephalalgia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>de Vries, B</au><au>Stam, AH</au><au>Beker, F</au><au>van den Maagdenberg, AMJM</au><au>Vanmolkot, KRJ</au><au>Laan, LAEM</au><au>Ginjaar, IB</au><au>Frants, RR</au><au>Lauffer, H</au><au>Haan, J</au><au>Haas, JP</au><au>Terwindt, GM</au><au>Ferrari, MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood</atitle><jtitle>Cephalalgia</jtitle><addtitle>Cephalalgia</addtitle><date>2008-08</date><risdate>2008</risdate><volume>28</volume><issue>8</issue><spage>887</spage><epage>891</epage><pages>887-891</pages><issn>0333-1024</issn><eissn>1468-2982</eissn><abstract>Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.</abstract><cop>London, England</cop><pub>SAGE Publications</pub><pmid>18498393</pmid><doi>10.1111/j.1468-2982.2008.01596.x</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent AHC CACNA1A Calcium Channels - genetics Genetic Linkage Genetic Predisposition to Disease - genetics Hemiplegia - genetics Humans Male Migraine Disorders - genetics Mutation Twins, Monozygotic - genetics |
| title | CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood |
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