FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3091639072> ?p ?o ?g. }

• W3091639072 endingPage "573" @default.
• W3091639072 startingPage "562" @default.
• W3091639072 abstract "A spectrum of seizure disorders is linked to mutations in Kv7.2 and Kv7.3 channels. Linking functional effects of identified mutations to their clinical presentation requires ongoing characterization of newly identified variants. In this study, we identified and functionally characterized a previously unreported mutation in the selectivity filter of Kv7.3.Next-generation sequencing was used to identify the Kv7.3[T313I] mutation in a family affected by neonatal seizures. Electrophysiological approaches were used to characterize the functional effects of this mutation on ion channels expressed in Xenopus laevis oocytes.Substitution of residue 313 from threonine to isoleucine (Kv7.3[T313I]) likely disrupts a critical intersubunit hydrogen bond. Characterization of the mutation in homomeric Kv7.3 channels demonstrated a total loss of channel function. Assembly in heteromeric channels (with Kv7.2) leads to modest suppression of total current when expressed in Xenopus laevis oocytes. Using a Kv7 activator with distinct effects on homomeric Kv7.2 vs heteromeric Kv7.2/Kv7.3 channels, we demonstrated that assembly of Kv7.2 and Kv7.3[T313I] generates functional channels.Biophysical and clinical effects of the T313I mutation are consistent with Kv7.3 mutations previously identified in cases of pharmacoresponsive self-limiting neonatal epilepsy. These findings expand our description of functionally characterized Kv7 channel variants and report new methods to distinguish molecular mechanisms of channel mutations." @default.
• W3091639072 created "2020-10-08" @default.
• W3091639072 creator A5004247993 @default.
• W3091639072 creator A5021590955 @default.
• W3091639072 creator A5046676581 @default.
• W3091639072 creator A5047150916 @default.
• W3091639072 creator A5047364660 @default.
• W3091639072 creator A5069337184 @default.
• W3091639072 creator A5074776299 @default.
• W3091639072 date "2020-10-17" @default.
• W3091639072 modified "2023-09-26" @default.
• W3091639072 title "Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I" @default.
• W3091639072 cites W1507797651 @default.
• W3091639072 cites W1611821860 @default.
• W3091639072 cites W1871933400 @default.
• W3091639072 cites W1892287811 @default.
• W3091639072 cites W1964272828 @default.
• W3091639072 cites W1977442749 @default.
• W3091639072 cites W1978437325 @default.
• W3091639072 cites W1982376931 @default.
• W3091639072 cites W1989051772 @default.
• W3091639072 cites W1989194458 @default.
• W3091639072 cites W1997537641 @default.
• W3091639072 cites W2019942525 @default.
• W3091639072 cites W2021764598 @default.
• W3091639072 cites W2025801454 @default.
• W3091639072 cites W2025884619 @default.
• W3091639072 cites W2041241955 @default.
• W3091639072 cites W2045629989 @default.
• W3091639072 cites W2053268514 @default.
• W3091639072 cites W2059206044 @default.
• W3091639072 cites W2059690890 @default.
• W3091639072 cites W2062463079 @default.
• W3091639072 cites W2066008360 @default.
• W3091639072 cites W2070032514 @default.
• W3091639072 cites W2071335594 @default.
• W3091639072 cites W2078823381 @default.
• W3091639072 cites W2079291010 @default.
• W3091639072 cites W2079373480 @default.
• W3091639072 cites W2096645192 @default.
• W3091639072 cites W2110084070 @default.
• W3091639072 cites W2112922820 @default.
• W3091639072 cites W2119854312 @default.
• W3091639072 cites W2120480653 @default.
• W3091639072 cites W2123122813 @default.
• W3091639072 cites W2124653618 @default.
• W3091639072 cites W2124667039 @default.
• W3091639072 cites W2127735309 @default.
• W3091639072 cites W2135893137 @default.
• W3091639072 cites W2140894987 @default.
• W3091639072 cites W2143070723 @default.
• W3091639072 cites W2168034088 @default.
• W3091639072 cites W2513639855 @default.
• W3091639072 cites W2549867175 @default.
• W3091639072 cites W2559366165 @default.
• W3091639072 cites W2592509339 @default.
• W3091639072 cites W2620982682 @default.
• W3091639072 cites W2767254232 @default.
• W3091639072 cites W2889235432 @default.
• W3091639072 cites W2899117255 @default.
• W3091639072 cites W2899372763 @default.
• W3091639072 cites W2966168642 @default.
• W3091639072 cites W2968038169 @default.
• W3091639072 cites W3029661147 @default.
• W3091639072 cites W3037293035 @default.
• W3091639072 cites W4323966247 @default.
• W3091639072 doi "https://doi.org/10.1002/epi4.12438" @default.
• W3091639072 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7733659" @default.
• W3091639072 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33336127" @default.
• W3091639072 hasPublicationYear "2020" @default.
• W3091639072 type Work @default.
• W3091639072 sameAs 3091639072 @default.
• W3091639072 citedByCount "4" @default.
• W3091639072 countsByYear W30916390722021 @default.
• W3091639072 countsByYear W30916390722023 @default.
• W3091639072 crossrefType "journal-article" @default.
• W3091639072 hasAuthorship W3091639072A5004247993 @default.
• W3091639072 hasAuthorship W3091639072A5021590955 @default.
• W3091639072 hasAuthorship W3091639072A5046676581 @default.
• W3091639072 hasAuthorship W3091639072A5047150916 @default.
• W3091639072 hasAuthorship W3091639072A5047364660 @default.
• W3091639072 hasAuthorship W3091639072A5069337184 @default.
• W3091639072 hasAuthorship W3091639072A5074776299 @default.
• W3091639072 hasBestOaLocation W30916390721 @default.
• W3091639072 hasConcept C104292427 @default.
• W3091639072 hasConcept C104317684 @default.
• W3091639072 hasConcept C2776104367 @default.
• W3091639072 hasConcept C2779535977 @default.
• W3091639072 hasConcept C501734568 @default.
• W3091639072 hasConcept C54355233 @default.
• W3091639072 hasConcept C86803240 @default.
• W3091639072 hasConcept C95444343 @default.
• W3091639072 hasConceptScore W3091639072C104292427 @default.
• W3091639072 hasConceptScore W3091639072C104317684 @default.
• W3091639072 hasConceptScore W3091639072C2776104367 @default.
• W3091639072 hasConceptScore W3091639072C2779535977 @default.
• W3091639072 hasConceptScore W3091639072C501734568 @default.
• W3091639072 hasConceptScore W3091639072C54355233 @default.

• next