FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3087029698> ?p ?o ?g. }

• W3087029698 endingPage "105200" @default.
• W3087029698 startingPage "105200" @default.
• W3087029698 abstract "De novo variants in KCNQ2 encoding for Kv7.2 voltage-dependent neuronal potassium (K+) channel subunits are associated with developmental epileptic encephalopathy (DEE). We herein describe the clinical and electroencephalographic (EEG) features of a child with early-onset DEE caused by the novel KCNQ2 p.G310S variant. In vitro experiments demonstrated that the mutation induces loss-of-function effects on the currents produced by channels incorporating mutant subunits; these effects were counteracted by the selective Kv7 opener retigabine and by gabapentin, a recently described Kv7 activator. Given these data, the patient started treatment with gabapentin, showing a rapid and sustained clinical and EEG improvement over the following months. Overall, these results suggest that gabapentin can be regarded as a precision therapy for DEEs due to KCNQ2 loss-of-function mutations." @default.
• W3087029698 created "2020-09-25" @default.
• W3087029698 creator A5009246824 @default.
• W3087029698 creator A5012755074 @default.
• W3087029698 creator A5013776228 @default.
• W3087029698 creator A5021278425 @default.
• W3087029698 creator A5027362336 @default.
• W3087029698 creator A5031203360 @default.
• W3087029698 creator A5033623125 @default.
• W3087029698 creator A5049176160 @default.
• W3087029698 creator A5049237819 @default.
• W3087029698 creator A5049933907 @default.
• W3087029698 creator A5052634729 @default.
• W3087029698 creator A5057579624 @default.
• W3087029698 creator A5060024119 @default.
• W3087029698 creator A5062771449 @default.
• W3087029698 creator A5063546581 @default.
• W3087029698 creator A5072561516 @default.
• W3087029698 creator A5074570521 @default.
• W3087029698 creator A5075536712 @default.
• W3087029698 creator A5081473300 @default.
• W3087029698 date "2020-10-01" @default.
• W3087029698 modified "2023-10-18" @default.
• W3087029698 title "Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy" @default.
• W3087029698 cites W1514359139 @default.
• W3087029698 cites W1892287811 @default.
• W3087029698 cites W1989194458 @default.
• W3087029698 cites W1997537641 @default.
• W3087029698 cites W2017193218 @default.
• W3087029698 cites W2101309147 @default.
• W3087029698 cites W2112922820 @default.
• W3087029698 cites W2132352566 @default.
• W3087029698 cites W2209781982 @default.
• W3087029698 cites W2469235540 @default.
• W3087029698 cites W2513639855 @default.
• W3087029698 cites W2559366165 @default.
• W3087029698 cites W2737964596 @default.
• W3087029698 cites W2765769421 @default.
• W3087029698 cites W2766827112 @default.
• W3087029698 cites W2791543129 @default.
• W3087029698 cites W2809363379 @default.
• W3087029698 cites W2814418625 @default.
• W3087029698 cites W2883140356 @default.
• W3087029698 cites W2886700232 @default.
• W3087029698 cites W2898326053 @default.
• W3087029698 cites W2961503558 @default.
• W3087029698 cites W2997765786 @default.
• W3087029698 cites W3033726198 @default.
• W3087029698 doi "https://doi.org/10.1016/j.phrs.2020.105200" @default.
• W3087029698 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32942014" @default.
• W3087029698 hasPublicationYear "2020" @default.
• W3087029698 type Work @default.
• W3087029698 sameAs 3087029698 @default.
• W3087029698 citedByCount "5" @default.
• W3087029698 countsByYear W30870296982021 @default.
• W3087029698 countsByYear W30870296982022 @default.
• W3087029698 crossrefType "journal-article" @default.
• W3087029698 hasAuthorship W3087029698A5009246824 @default.
• W3087029698 hasAuthorship W3087029698A5012755074 @default.
• W3087029698 hasAuthorship W3087029698A5013776228 @default.
• W3087029698 hasAuthorship W3087029698A5021278425 @default.
• W3087029698 hasAuthorship W3087029698A5027362336 @default.
• W3087029698 hasAuthorship W3087029698A5031203360 @default.
• W3087029698 hasAuthorship W3087029698A5033623125 @default.
• W3087029698 hasAuthorship W3087029698A5049176160 @default.
• W3087029698 hasAuthorship W3087029698A5049237819 @default.
• W3087029698 hasAuthorship W3087029698A5049933907 @default.
• W3087029698 hasAuthorship W3087029698A5052634729 @default.
• W3087029698 hasAuthorship W3087029698A5057579624 @default.
• W3087029698 hasAuthorship W3087029698A5060024119 @default.
• W3087029698 hasAuthorship W3087029698A5062771449 @default.
• W3087029698 hasAuthorship W3087029698A5063546581 @default.
• W3087029698 hasAuthorship W3087029698A5072561516 @default.
• W3087029698 hasAuthorship W3087029698A5074570521 @default.
• W3087029698 hasAuthorship W3087029698A5075536712 @default.
• W3087029698 hasAuthorship W3087029698A5081473300 @default.
• W3087029698 hasBestOaLocation W30870296981 @default.
• W3087029698 hasConcept C126322002 @default.
• W3087029698 hasConcept C142724271 @default.
• W3087029698 hasConcept C169760540 @default.
• W3087029698 hasConcept C204787440 @default.
• W3087029698 hasConcept C2776608144 @default.
• W3087029698 hasConcept C2778186239 @default.
• W3087029698 hasConcept C2778621155 @default.
• W3087029698 hasConcept C42219234 @default.
• W3087029698 hasConcept C522805319 @default.
• W3087029698 hasConcept C71924100 @default.
• W3087029698 hasConcept C83743174 @default.
• W3087029698 hasConcept C86803240 @default.
• W3087029698 hasConcept C98274493 @default.
• W3087029698 hasConceptScore W3087029698C126322002 @default.
• W3087029698 hasConceptScore W3087029698C142724271 @default.
• W3087029698 hasConceptScore W3087029698C169760540 @default.
• W3087029698 hasConceptScore W3087029698C204787440 @default.
• W3087029698 hasConceptScore W3087029698C2776608144 @default.
• W3087029698 hasConceptScore W3087029698C2778186239 @default.
• W3087029698 hasConceptScore W3087029698C2778621155 @default.
• W3087029698 hasConceptScore W3087029698C42219234 @default.

• next