Long QT Syndrome: Difference between revisions

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Line 30: Line 30:
| chromosoom
| chromosoom
| gen (met [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM] links)
| gen (met [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM] links)
| eiwit(kanaal)
| protein
| ionchannel
| frequentie
| frequentie
| SCD incidentie
| SCD incidentie
Line 41: Line 42:
| 11p15
| 11p15
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542&rn=1 KCNQ1]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542&rn=1 KCNQ1]
| KvLQT1 (Iks)
| KvLQT1  
| I''ks''
| ~50%
| ~50%
| 0.30%/jaar
| 0.30%/jaar
Line 52: Line 54:
| 7q35
| 7q35
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427 KCNH2]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427 KCNH2]
| hERG(Ikr)
| hERG
| I''kr''
| 30-40%
| 30-40%
| 0.60%/jaar
| 0.60%/jaar
Line 64: Line 67:
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163 SCN5A]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163 SCN5A]
| NA kanaal
| NA kanaal
|
| 5-10%
| 5-10%
| 0.56%/jaar
| 0.56%/jaar
Line 75: Line 79:
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410 ANK2]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410 ANK2]
| Ankyrin B
| Ankyrin B
|
| <1%
| <1%
|
|
Line 85: Line 90:
| 21q22
| 21q22
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261 KCNE1]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261 KCNE1]
| minK (Iks)
| minK  
| I''ks''
| <1%
| <1%
|
|
Line 96: Line 102:
| 21q22
| 21q22
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796 KCNE2]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796 KCNE2]
| MiRP1(Ikr)
| MiRP1
| I''kr''
| <1%
| <1%
|
|
Line 107: Line 114:
| 17q23
| 17q23
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681 KCNJ2]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681 KCNJ2]
| Kir 2.1(IK1)
| Kir 2.1
| I''K1''
| <1%
| <1%
|
|
Line 118: Line 126:
| 6q8A
| 6q8A
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205 CACNA1C]
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205 CACNA1C]
| (ICa-L)
|  
| I''Ca-L''
| <1%
| <1%
|  
|