| http://purl.uniprot.org/citations/10590249 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10590249 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10590249 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in SCN5A, the gene encoding the cardiac Na(+) channel, have been identified in 2 distinct diseases associated with sudden death: one form of the long-QT syndrome (LQT(3)) and the Brugada syndrome. We have screened SCN5A in a large 8-generation kindred characterized by a high incidence of nocturnal sudden death, and QT-interval prolongation and the "Brugada ECG" occurring in the same subjects. An insertion of 3 nucleotides (TGA) at position 5537, predicted to cause an insertion of aspartic acid (1795insD) in the C-terminal domain of the protein, was linked to the phenotype and was identified in all electrocardiographically affected family members. ECGs were obtained from 79 adults with a defined genetic status (carriers, n=43; noncarriers, n=36). In affected individuals, PR and QRS durations and QT intervals are prolonged (P<0.0001 for all parameters). ST segment elevation in the right precordial leads is present as well (P<0.0001). Twenty-five family members died suddenly, 16 of them during the night. Expression of wild-type and mutant Na(+) channels in Xenopus oocytes revealed that the 1795insD mutation gives rise to a 7.3-mV negative shift of the steady-state inactivation curve and an 8.1-mV positive shift of the steady-state activation curve. The functional consequence of both shifts is likely to be a reduced Na(+) current during the upstroke of the action potential. LQT(3) and Brugada syndrome are allelic disorders but may also share a common genotype."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.org/dc/terms/identifier | "doi:10.1161/01.res.85.12.1206"xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.org/dc/terms/identifier | "doi:10.1161/01.res.85.12.1206"xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Rook M.B."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Rook M.B."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Bezzina C.R."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Bezzina C.R."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Postma A.V."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Postma A.V."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Mannens M.M.A.M."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Mannens M.M.A.M."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Tan-Sindhunata G."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Tan-Sindhunata G."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Wilde A.A.M."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Wilde A.A.M."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Bink-Boelkens M.T.E."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Bink-Boelkens M.T.E."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Veldkamp M.W."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Veldkamp M.W."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Viersma J.-W."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "Viersma J.-W."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "van Den Berg M.P."xsd:string |
| http://purl.uniprot.org/citations/10590249 | http://purl.uniprot.org/core/author | "van Den Berg M.P."xsd:string |