| http://purl.uniprot.org/citations/15532032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15532032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15532032 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe a unique family in which several individual are affected with episodes of ataxia that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members had episodes typically lasting for several hours, and none of them had muscle abnormalities including myokymia. Episodic ataxia type 1 (EA1) was not considered initially as a clinical diagnosis for the affected individuals in this family. However, by linkage mapping, sequencing and polymorphism analysis, all affecteds were found to have a novel mutation in KCNA1. Numerous missense mutations have been described previously in KCNA1 that cause EA1. The mutation c.1025G>T replaces a highly conserved serine with isoleucine at position 342 (p.Ser342Ile) in the highly conserved fifth transmembrane domain of the KCNA1. This mutation leads to a distinct clinical phenotype without myokymia broadening the scope of clinical characteristics of EA1 and highlighting the heterogeneity of phenotypic effects from distinct missense mutations."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9295"xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9295"xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Lee H."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Lee H."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Wang H."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Wang H."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Nelson S.F."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Nelson S.F."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Jen J.C."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Jen J.C."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Sabatti C."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Sabatti C."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Baloh R.W."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/author | "Baloh R.W."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/pages | "536"xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/pages | "536"xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/title | "A novel mutation in KCNA1 causes episodic ataxia without myokymia."xsd:string |
| http://purl.uniprot.org/citations/15532032 | http://purl.uniprot.org/core/title | "A novel mutation in KCNA1 causes episodic ataxia without myokymia."xsd:string |