Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
2006-09-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850253137224400896 |
|---|---|
| author | Luciana R. Lopes Mario Fernando Prieto Peres Kaate R.J. Vanmolkot Patrícia R. Tobo Eliova Zukerman Rune R. Frants Arn M.J.M. van den Maagdenberg Carlos Alberto Moreira-Filho |
| author_facet | Luciana R. Lopes Mario Fernando Prieto Peres Kaate R.J. Vanmolkot Patrícia R. Tobo Eliova Zukerman Rune R. Frants Arn M.J.M. van den Maagdenberg Carlos Alberto Moreira-Filho |
| author_sort | Luciana R. Lopes |
| collection | DOAJ |
| description | Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals - 13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families. |
| format | Article |
| id | doaj-art-69b718fa49b649ac9f11843e8a1ea121 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2006-09-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-69b718fa49b649ac9f11843e8a1ea1212025-08-20T01:57:28ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272006-09-01643a54955210.1590/S0004-282X2006000400001Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM familiesLuciana R. Lopes0Mario Fernando Prieto Peres1Kaate R.J. Vanmolkot2Patrícia R. Tobo3Eliova Zukerman4Rune R. Frants5Arn M.J.M. van den Maagdenberg6Carlos Alberto Moreira-Filho7Hospital Israelita Albert EinsteinHIAELeiden University Medical CenterHospital Israelita Albert EinsteinHIAELUMCLUMCHIAEFamilial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals - 13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001&tlng=enfamilial hemiplegic migraineCACNA1AATP1A2SCN1agenemutation |
| spellingShingle | Luciana R. Lopes Mario Fernando Prieto Peres Kaate R.J. Vanmolkot Patrícia R. Tobo Eliova Zukerman Rune R. Frants Arn M.J.M. van den Maagdenberg Carlos Alberto Moreira-Filho Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families Arquivos de Neuro-Psiquiatria familial hemiplegic migraine CACNA1A ATP1A2 SCN1a gene mutation |
| title | Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
| title_full | Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
| title_fullStr | Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
| title_full_unstemmed | Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
| title_short | Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families |
| title_sort | mutation analysis of cacna1a and atp1a2 genes in brazilian fhm families |
| topic | familial hemiplegic migraine CACNA1A ATP1A2 SCN1a gene mutation |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400001&tlng=en |
| work_keys_str_mv | AT lucianarlopes mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT mariofernandoprietoperes mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT kaaterjvanmolkot mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT patriciartobo mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT eliovazukerman mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT runerfrants mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT arnmjmvandenmaagdenberg mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies AT carlosalbertomoreirafilho mutationanalysisofcacna1aandatp1a2genesinbrazilianfhmfamilies |