| http://purl.uniprot.org/citations/30175250 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30175250 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the SCN2A gene encoding a voltage-gated sodium channel Nav1.2 are associated with epilepsies, intellectual disability, and autism. SCN2A gain-of-function mutations cause early-onset severe epilepsies, while loss-of-function mutations cause autism with milder and/or later-onset epilepsies. Here we show that both heterozygous Scn2a-knockout and knock-in mice harboring a patient-derived nonsense mutation exhibit ethosuximide-sensitive absence-like seizures associated with spike-and-wave discharges at adult stages. Unexpectedly, identical seizures are reproduced and even more prominent in mice with heterozygous Scn2a deletion specifically in dorsal-telencephalic (e.g., neocortical and hippocampal) excitatory neurons, but are undetected in mice with selective Scn2a deletion in inhibitory neurons. In adult cerebral cortex of wild-type mice, most Nav1.2 is expressed in excitatory neurons with a steady increase and redistribution from proximal (i.e., axon initial segments) to distal axons. These results indicate a pivotal role of Nav1.2 haplodeficiency in excitatory neurons in epilepsies of patients with SCN2A loss-of-function mutations."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.org/dc/terms/identifier | "doi:10.1038/s42003-018-0099-2"xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Inoue Y."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Hensch T.K."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Miyamoto H."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Nakayama T."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Montal M."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Yamagata T."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Itohara S."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Noebels J.L."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Yamakawa K."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Cao D."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Yanagawa Y."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Miura E."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Yuzaki M."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Ohtani H."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Mazaki E."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Ogiwara I."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Tatsukawa T."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Atapour N."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/author | "Ernst S.J."xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/name | "Commun Biol"xsd:string |
| http://purl.uniprot.org/citations/30175250 | http://purl.uniprot.org/core/pages | "96"xsd:string |