| http://purl.uniprot.org/citations/24445160 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24445160 | http://www.w3.org/2000/01/rdf-schema#comment | "Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations, similar to hemiplegic migraine, has been reported. We report here two new BPTI patients from the same family carrying a heterozygous mutation in the CACNA1A gene leading to the change p.Glu533Lys. Functional analysis revealed that this mutation induces a loss of channel function due to impaired gating by voltage and much lower current density. Our data suggest that BPTI, a periodic syndrome commonly considered a migraine precursor, constitutes an age-specific manifestation of defective neuronal calcium channel activity."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejpn.2013.12.011"xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Cormand B."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Fernandez-Fernandez J.M."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Macaya A."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Valverde M.A."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Vila-Pueyo M."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Gene G.G."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Elorza X."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Flotats-Bastardes M."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/author | "Sintas C."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/name | "Eur J Paediatr Neurol"xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/pages | "430-433"xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/title | "A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy."xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/24445160 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24445160 |
| http://purl.uniprot.org/citations/24445160 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24445160 |
| http://purl.uniprot.org/uniprot/#_A0A087WW63-mappedCitation-24445160 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24445160 |
| http://purl.uniprot.org/uniprot/#_B3SZS3-mappedCitation-24445160 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24445160 |
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| http://purl.uniprot.org/uniprot/#_O95387-mappedCitation-24445160 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24445160 |
| http://purl.uniprot.org/uniprot/#_O00555-mappedCitation-24445160 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24445160 |
| http://purl.uniprot.org/uniprot/#_Q9NS89-mappedCitation-24445160 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24445160 |