FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045700065> ?p ?o ?g. }

• W2045700065 endingPage "64" @default.
• W2045700065 startingPage "55" @default.
• W2045700065 abstract "The etiopathogenesis of temporal lobe epilepsy (TLE) and its subgroups – mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) and TLE with antecedent febrile seizures (TLE-FS) – is poorly understood. It has been proposed that the water channel aquaporin-4 (AQP4) and the potassium channel Kir4.1 (KCNJ10 gene) act in concert to regulate extracellular K+ homeostasis and that functional alterations of these channels influence neuronal excitability. The current study was designed to identify variants of the AQP4 and KCNJ10 genes associated with TLE and subgroups of this condition. We included 218 Norwegian patients with TLE and 181 ethnically matched healthy controls. An association study was established in which all TLE patients were compared with healthy controls. Additionally, subgroups of 56 MTLE-HS patients were compared with 162 TLE patients without HS, and 102 TLE-FS patients were compared with 105 TLE without FS. We found eight single SNPs, seven in KCNJ10 and one between KCNJ10 and KCNJ9, associated with TLE-FS (nominal p-values from 0.009 to 0.041). Seven of the SNPs segregate into one large haplotype block expanding from KCNJ10 to KCNJ9, including the region interposed those genes. One haplotype was overrepresented in the TLE-FS cases (nominal p-value 0.014). These results were confirmed by explorative multivariate analysis indicating that a combination of SNPs from KCNJ10, the region between KCNJ10 and KCNJ9, and the AQP4 gene is associated with TLE-FS. For the TLE cohort as a whole, explorative multivariate analysis indicated a combination of SNPs from the KCNJ10 and AQP4 genes in association with TLE. Variations in the AQP4 and the KCNJ10/KCNJ9 region are likely to be associated with TLE, particularly TLE-FS, supporting the suggestion that perturbations of water and K+ transport are involved in the etiopathogenesis of TLE." @default.
• W2045700065 created "2016-06-24" @default.
• W2045700065 creator A5011737941 @default.
• W2045700065 creator A5031803655 @default.
• W2045700065 creator A5035015458 @default.
• W2045700065 creator A5036518866 @default.
• W2045700065 creator A5051321266 @default.
• W2045700065 creator A5066413716 @default.
• W2045700065 creator A5085842865 @default.
• W2045700065 creator A5087096006 @default.
• W2045700065 creator A5088446288 @default.
• W2045700065 date "2010-01-01" @default.
• W2045700065 modified "2023-10-16" @default.
• W2045700065 title "Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy" @default.
• W2045700065 cites W1539041562 @default.
• W2045700065 cites W1965339142 @default.
• W2045700065 cites W1968298146 @default.
• W2045700065 cites W1972464623 @default.
• W2045700065 cites W1972523707 @default.
• W2045700065 cites W1973754165 @default.
• W2045700065 cites W1992002509 @default.
• W2045700065 cites W1996760543 @default.
• W2045700065 cites W1999371178 @default.
• W2045700065 cites W2006644004 @default.
• W2045700065 cites W2007654857 @default.
• W2045700065 cites W2010793343 @default.
• W2045700065 cites W2025528474 @default.
• W2045700065 cites W2044984191 @default.
• W2045700065 cites W2048244833 @default.
• W2045700065 cites W2048988573 @default.
• W2045700065 cites W2059297225 @default.
• W2045700065 cites W2065372694 @default.
• W2045700065 cites W2071813447 @default.
• W2045700065 cites W2089428334 @default.
• W2045700065 cites W2089450477 @default.
• W2045700065 cites W2094993935 @default.
• W2045700065 cites W2096497741 @default.
• W2045700065 cites W2102561151 @default.
• W2045700065 cites W2113184411 @default.
• W2045700065 cites W2115557128 @default.
• W2045700065 cites W2152664025 @default.
• W2045700065 cites W2169931873 @default.
• W2045700065 cites W2740984310 @default.
• W2045700065 doi "https://doi.org/10.1016/j.eplepsyres.2009.09.023" @default.
• W2045700065 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19864112" @default.
• W2045700065 hasPublicationYear "2010" @default.
• W2045700065 type Work @default.
• W2045700065 sameAs 2045700065 @default.
• W2045700065 citedByCount "92" @default.
• W2045700065 countsByYear W20457000652012 @default.
• W2045700065 countsByYear W20457000652013 @default.
• W2045700065 countsByYear W20457000652014 @default.
• W2045700065 countsByYear W20457000652015 @default.
• W2045700065 countsByYear W20457000652016 @default.
• W2045700065 countsByYear W20457000652017 @default.
• W2045700065 countsByYear W20457000652018 @default.
• W2045700065 countsByYear W20457000652019 @default.
• W2045700065 countsByYear W20457000652020 @default.
• W2045700065 countsByYear W20457000652021 @default.
• W2045700065 countsByYear W20457000652022 @default.
• W2045700065 countsByYear W20457000652023 @default.
• W2045700065 crossrefType "journal-article" @default.
• W2045700065 hasAuthorship W2045700065A5011737941 @default.
• W2045700065 hasAuthorship W2045700065A5031803655 @default.
• W2045700065 hasAuthorship W2045700065A5035015458 @default.
• W2045700065 hasAuthorship W2045700065A5036518866 @default.
• W2045700065 hasAuthorship W2045700065A5051321266 @default.
• W2045700065 hasAuthorship W2045700065A5066413716 @default.
• W2045700065 hasAuthorship W2045700065A5085842865 @default.
• W2045700065 hasAuthorship W2045700065A5087096006 @default.
• W2045700065 hasAuthorship W2045700065A5088446288 @default.
• W2045700065 hasConcept C104317684 @default.
• W2045700065 hasConcept C135763542 @default.
• W2045700065 hasConcept C153209595 @default.
• W2045700065 hasConcept C169760540 @default.
• W2045700065 hasConcept C197754878 @default.
• W2045700065 hasConcept C2777597344 @default.
• W2045700065 hasConcept C2778186239 @default.
• W2045700065 hasConcept C2781099131 @default.
• W2045700065 hasConcept C54355233 @default.
• W2045700065 hasConcept C71924100 @default.
• W2045700065 hasConcept C86803240 @default.
• W2045700065 hasConceptScore W2045700065C104317684 @default.
• W2045700065 hasConceptScore W2045700065C135763542 @default.
• W2045700065 hasConceptScore W2045700065C153209595 @default.
• W2045700065 hasConceptScore W2045700065C169760540 @default.
• W2045700065 hasConceptScore W2045700065C197754878 @default.
• W2045700065 hasConceptScore W2045700065C2777597344 @default.
• W2045700065 hasConceptScore W2045700065C2778186239 @default.
• W2045700065 hasConceptScore W2045700065C2781099131 @default.
• W2045700065 hasConceptScore W2045700065C54355233 @default.
• W2045700065 hasConceptScore W2045700065C71924100 @default.
• W2045700065 hasConceptScore W2045700065C86803240 @default.
• W2045700065 hasIssue "1" @default.
• W2045700065 hasLocation W20457000651 @default.
• W2045700065 hasLocation W20457000652 @default.
• W2045700065 hasOpenAccess W2045700065 @default.
• W2045700065 hasPrimaryLocation W20457000651 @default.

• next