| http://purl.uniprot.org/citations/20493457 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20493457 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20493457 | http://www.w3.org/2000/01/rdf-schema#comment | "A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay. Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable). We assumed that another gene within the deletion might contribute to the phenotype of group A. SPTAN1 encoding alpha-II spectrin, which is essential for proper myelination in zebrafish, turned out to be deleted. In two subjects, an in-frame 3 bp deletion and a 6 bp duplication in SPTAN1 were found at the initial nucleation site of the alpha/beta spectrin heterodimer. SPTAN1 was further screened in six unrelated individuals with WS and hypomyelination, but no mutations were found. Recombinant mutant (mut) and wild-type (WT) alpha-II spectrin could assemble heterodimers with beta-II spectrin, but alpha-II (mut)/beta-II spectrin heterodimers were thermolabile compared with the alpha-II (WT)/beta-II heterodimers. Transient expression in mouse cortical neurons revealed aggregation of alpha-II (mut)/beta-II and alpha-II (mut)/beta-III spectrin heterodimers, which was also observed in lymphoblastoid cells from two subjects with in-frame mutations. Clustering of ankyrinG and voltage-gated sodium channels at axon initial segment (AIS) was disturbed in relation to the aggregates, together with an elevated action potential threshold. These findings suggest that pathological aggregation of alpha/beta spectrin heterodimers and abnormal AIS integrity resulting from SPTAN1 mutations were involved in pathogenesis of infantile epilepsy."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.04.013"xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.04.013"xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Hamada K."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Hamada K."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Hayashi K."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Hayashi K."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Goto T."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Goto T."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Kato M."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Kato M."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Okada I."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Okada I."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Miyata R."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Miyata R."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Nagai T."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Nagai T."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Ogata K."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Ogata K."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |
| http://purl.uniprot.org/citations/20493457 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |