FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2942570087> ?p ?o ?g. }

• W2942570087 endingPage "857" @default.
• W2942570087 startingPage "848" @default.
• W2942570087 abstract "Pathogenic variants in KCNT1 represent an important cause of treatment-resistant epilepsy, for which an effective therapy has been elusive. Reports about the effectiveness of quinidine, a candidate precision therapy, have been mixed. We sought to evaluate the treatment responsiveness of patients with KCNT1-related epilepsy. We performed an observational study of 43 patients using a collaborative KCNT1 patient registry. We assessed treatment efficacy based upon clinical seizure reduction, side effects of quinidine therapy, and variant-specific responsiveness to treatment. Quinidine treatment resulted in a > 50% seizure reduction in 20% of patients, with rare patients achieving transient seizure freedom. Multiple other therapies demonstrated some success in reducing seizure frequency, including the ketogenic diet and vigabatrin, the latter particularly in patients with epileptic spasms. Patients with the best quinidine response had variants that clustered distal to the NADP domain within the RCK2 domain of the protein. Half of patients did not receive a quinidine trial. In those who did, nearly half did not achieve therapeutic blood levels. More favorable response to quinidine in patients with KCNT1 variants distal to the NADP domain within the RCK2 domain may suggest a variant-specific response." @default.
• W2942570087 created "2019-05-09" @default.
• W2942570087 creator A5000292180 @default.
• W2942570087 creator A5001287846 @default.
• W2942570087 creator A5002258947 @default.
• W2942570087 creator A5008575708 @default.
• W2942570087 creator A5008944813 @default.
• W2942570087 creator A5012179877 @default.
• W2942570087 creator A5014445771 @default.
• W2942570087 creator A5021302801 @default.
• W2942570087 creator A5024574359 @default.
• W2942570087 creator A5032248849 @default.
• W2942570087 creator A5034336613 @default.
• W2942570087 creator A5036058940 @default.
• W2942570087 creator A5038577761 @default.
• W2942570087 creator A5049933907 @default.
• W2942570087 creator A5052728002 @default.
• W2942570087 creator A5063894541 @default.
• W2942570087 creator A5070118171 @default.
• W2942570087 creator A5071894755 @default.
• W2942570087 creator A5072513850 @default.
• W2942570087 creator A5074977997 @default.
• W2942570087 creator A5077405917 @default.
• W2942570087 creator A5083154542 @default.
• W2942570087 creator A5087910719 @default.
• W2942570087 creator A5088442686 @default.
• W2942570087 creator A5091379651 @default.
• W2942570087 date "2019-05-03" @default.
• W2942570087 modified "2023-10-18" @default.
• W2942570087 title "Treatment Responsiveness in KCNT1-Related Epilepsy" @default.
• W2942570087 cites W1558757561 @default.
• W2942570087 cites W1825041918 @default.
• W2942570087 cites W1976482700 @default.
• W2942570087 cites W1995658722 @default.
• W2942570087 cites W2007850520 @default.
• W2942570087 cites W2034651748 @default.
• W2942570087 cites W2053989438 @default.
• W2942570087 cites W2060332453 @default.
• W2942570087 cites W2133298085 @default.
• W2942570087 cites W2147817553 @default.
• W2942570087 cites W2152513067 @default.
• W2942570087 cites W2228703243 @default.
• W2942570087 cites W2342958225 @default.
• W2942570087 cites W2769543408 @default.
• W2942570087 cites W2775120542 @default.
• W2942570087 cites W2780910034 @default.
• W2942570087 cites W2891344712 @default.
• W2942570087 cites W4240492906 @default.
• W2942570087 doi "https://doi.org/10.1007/s13311-019-00739-y" @default.
• W2942570087 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6694367" @default.
• W2942570087 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31054119" @default.
• W2942570087 hasPublicationYear "2019" @default.
• W2942570087 type Work @default.
• W2942570087 sameAs 2942570087 @default.
• W2942570087 citedByCount "56" @default.
• W2942570087 countsByYear W29425700872019 @default.
• W2942570087 countsByYear W29425700872020 @default.
• W2942570087 countsByYear W29425700872021 @default.
• W2942570087 countsByYear W29425700872022 @default.
• W2942570087 countsByYear W29425700872023 @default.
• W2942570087 crossrefType "journal-article" @default.
• W2942570087 hasAuthorship W2942570087A5000292180 @default.
• W2942570087 hasAuthorship W2942570087A5001287846 @default.
• W2942570087 hasAuthorship W2942570087A5002258947 @default.
• W2942570087 hasAuthorship W2942570087A5008575708 @default.
• W2942570087 hasAuthorship W2942570087A5008944813 @default.
• W2942570087 hasAuthorship W2942570087A5012179877 @default.
• W2942570087 hasAuthorship W2942570087A5014445771 @default.
• W2942570087 hasAuthorship W2942570087A5021302801 @default.
• W2942570087 hasAuthorship W2942570087A5024574359 @default.
• W2942570087 hasAuthorship W2942570087A5032248849 @default.
• W2942570087 hasAuthorship W2942570087A5034336613 @default.
• W2942570087 hasAuthorship W2942570087A5036058940 @default.
• W2942570087 hasAuthorship W2942570087A5038577761 @default.
• W2942570087 hasAuthorship W2942570087A5049933907 @default.
• W2942570087 hasAuthorship W2942570087A5052728002 @default.
• W2942570087 hasAuthorship W2942570087A5063894541 @default.
• W2942570087 hasAuthorship W2942570087A5070118171 @default.
• W2942570087 hasAuthorship W2942570087A5071894755 @default.
• W2942570087 hasAuthorship W2942570087A5072513850 @default.
• W2942570087 hasAuthorship W2942570087A5074977997 @default.
• W2942570087 hasAuthorship W2942570087A5077405917 @default.
• W2942570087 hasAuthorship W2942570087A5083154542 @default.
• W2942570087 hasAuthorship W2942570087A5087910719 @default.
• W2942570087 hasAuthorship W2942570087A5088442686 @default.
• W2942570087 hasAuthorship W2942570087A5091379651 @default.
• W2942570087 hasBestOaLocation W29425700871 @default.
• W2942570087 hasConcept C118552586 @default.
• W2942570087 hasConcept C126322002 @default.
• W2942570087 hasConcept C12770488 @default.
• W2942570087 hasConcept C141071460 @default.
• W2942570087 hasConcept C16568411 @default.
• W2942570087 hasConcept C23131810 @default.
• W2942570087 hasConcept C2775858608 @default.
• W2942570087 hasConcept C2778186239 @default.
• W2942570087 hasConcept C2780339425 @default.
• W2942570087 hasConcept C2780837902 @default.
• W2942570087 hasConcept C535046627 @default.

• next