@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_head { this: np:hasAssertion dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_assertion; np:hasProvenance dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_provenance; np:hasPublicationInfo dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_publicationInfo; a np:Nanopublication . dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_assertion a np:Assertion . dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_provenance a np:Provenance . dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_publicationInfo a np:PublicationInfo . } dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_assertion { miriam-gene:6513 a ncit:C16612 . lld:C0220669 a ncit:C7057 . dgn-gda:DGN2cd2be219dde4bc15c3b38ba3e470e4b sio:SIO_000628 miriam-gene:6513, lld:C0220669; a sio:SIO_001121 . } dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_provenance { dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_assertion dcterms:description "[These five syndromes differ markedly in their etiologies and clinical features, and were selected for discussion because the seizures are generated at a different 'level' of neural dysfunction in each case: (1) mutation of a specific family of ion (potassium) channels in benign familial neonatal convulsions; (2) deficiency of the protein that transports glucose into the CNS in Glut-1 deficiency; (3) aberrantly formed local neural circuits in focal cortical dysplasia; (4) synaptic reorganization of limbic circuitry in temporal lobe epilepsy; and (5) abnormal thalamocortical circuit function in childhood absence epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:16437061; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP695810.RAuEQAr-cACLXy8XBTs7CA9LT6thiU0NGKxhYBa75uBbY130_publicationInfo { this: dcterms:created "2015-08-25T14:44:39+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }