| http://purl.uniprot.org/citations/23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23055484 | http://www.w3.org/2000/01/rdf-schema#comment | "Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). Inheritance of GEFS+ is dominant, but the underlying cellular mechanisms remain poorly understood. Here we report that knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semidominant temperature-induced seizure phenotype. Electrophysiological studies of GABAergic interneurons in the brains of adult GEFS+ flies reveal a novel cellular mechanism underlying heat-induced seizures: the deactivation threshold for persistent sodium currents reversibly shifts to a more negative voltage when the temperature is elevated. This leads to sustained depolarizations in GABAergic neurons and reduced inhibitory activity in the central nervous system. Furthermore, our data indicate a natural temperature-dependent shift in sodium current deactivation (exacerbated by mutation) may contribute to febrile seizures in GEFS+ and perhaps normal individuals."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.org/dc/terms/identifier | "doi:10.1523/jneurosci.2932-12.2012"xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "Sun L."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "Nguyen V."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "Reenan R."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "Staber C."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "O'Dowd D.K."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "Schutte R.J."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/author | "Gilligan J."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/name | "J Neurosci"xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/pages | "14145-14155"xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/title | "A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure."xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://purl.uniprot.org/core/volume | "32"xsd:string |
| http://purl.uniprot.org/citations/23055484 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23055484 |
| http://purl.uniprot.org/citations/23055484 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23055484 |
| http://purl.uniprot.org/uniprot/#_B7Z0Z2-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSE4-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSE6-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSE7-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSE9-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSF1-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSF2-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |
| http://purl.uniprot.org/uniprot/#_M9MSP1-mappedCitation-23055484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23055484 |