FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1985245021> ?p ?o ?g. }

• W1985245021 abstract "The sodium channel Nav1.6, encoded by the gene SCN8A, is one of the major voltage-gated channels in human brain. The sequences of sodium channels have been highly conserved during evolution, and minor changes in biophysical properties can have a major impact in vivo. Insight into the role of Nav1.6 has come from analysis of spontaneous and induced mutations of mouse Scn8a during the past 18 years. Only within the past year has the role of SCN8A in human disease become apparent from whole exome and genome sequences of patients with sporadic disease. Unique features of Nav1.6 include its contribution to persistent current, resurgent current, repetitive neuronal firing, and subcellular localization at the axon initial segment (AIS) and nodes of Ranvier. Loss of Nav1.6 activity results in reduced neuronal excitability, while gain-of-function mutations can increase neuronal excitability. Mouse Scn8a (med) mutants exhibit movement disorders including ataxia, tremor and dystonia. Thus far, more than ten human de novo mutations have been identified in patients with two types of disorders, epileptic encephalopathy and intellectual disability. We review these human mutations as well as the unique features of Nav1.6 that contribute to its role in determining neuronal excitability in vivo. A supplemental figure illustrating the positions of amino acid residues within the four domains and 24 transmembrane segments of Nav1.6 is provided to facilitate the location of novel mutations within the channel protein." @default.
• W1985245021 created "2016-06-24" @default.
• W1985245021 creator A5038457148 @default.
• W1985245021 creator A5070868538 @default.
• W1985245021 date "2013-01-01" @default.
• W1985245021 modified "2023-10-11" @default.
• W1985245021 title "Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability" @default.
• W1985245021 cites W1537888364 @default.
• W1985245021 cites W1969213411 @default.
• W1985245021 cites W1974433144 @default.
• W1985245021 cites W1986726759 @default.
• W1985245021 cites W1986790723 @default.
• W1985245021 cites W2024279302 @default.
• W1985245021 cites W2040809470 @default.
• W1985245021 cites W2052407013 @default.
• W1985245021 cites W2053437843 @default.
• W1985245021 cites W2055497775 @default.
• W1985245021 cites W2061596350 @default.
• W1985245021 cites W2068738439 @default.
• W1985245021 cites W2071201507 @default.
• W1985245021 cites W2079735011 @default.
• W1985245021 cites W2087665886 @default.
• W1985245021 cites W2102246439 @default.
• W1985245021 cites W2104835101 @default.
• W1985245021 cites W2123512719 @default.
• W1985245021 cites W2132101097 @default.
• W1985245021 cites W2135900115 @default.
• W1985245021 cites W2148901385 @default.
• W1985245021 cites W2153384396 @default.
• W1985245021 cites W2153967918 @default.
• W1985245021 cites W2160880533 @default.
• W1985245021 cites W2161500245 @default.
• W1985245021 cites W2162587549 @default.
• W1985245021 cites W3196492948 @default.
• W1985245021 doi "https://doi.org/10.3389/fgene.2013.00213" @default.
• W1985245021 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3809569" @default.
• W1985245021 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24194747" @default.
• W1985245021 hasPublicationYear "2013" @default.
• W1985245021 type Work @default.
• W1985245021 sameAs 1985245021 @default.
• W1985245021 citedByCount "113" @default.
• W1985245021 countsByYear W19852450212013 @default.
• W1985245021 countsByYear W19852450212014 @default.
• W1985245021 countsByYear W19852450212015 @default.
• W1985245021 countsByYear W19852450212016 @default.
• W1985245021 countsByYear W19852450212017 @default.
• W1985245021 countsByYear W19852450212018 @default.
• W1985245021 countsByYear W19852450212019 @default.
• W1985245021 countsByYear W19852450212020 @default.
• W1985245021 countsByYear W19852450212021 @default.
• W1985245021 countsByYear W19852450212022 @default.
• W1985245021 countsByYear W19852450212023 @default.
• W1985245021 crossrefType "journal-article" @default.
• W1985245021 hasAuthorship W1985245021A5038457148 @default.
• W1985245021 hasAuthorship W1985245021A5070868538 @default.
• W1985245021 hasBestOaLocation W19852450211 @default.
• W1985245021 hasConcept C104317684 @default.
• W1985245021 hasConcept C127716648 @default.
• W1985245021 hasConcept C16671776 @default.
• W1985245021 hasConcept C169760540 @default.
• W1985245021 hasConcept C178790620 @default.
• W1985245021 hasConcept C185592680 @default.
• W1985245021 hasConcept C2777589315 @default.
• W1985245021 hasConcept C2779500118 @default.
• W1985245021 hasConcept C2780906641 @default.
• W1985245021 hasConcept C501734568 @default.
• W1985245021 hasConcept C50952357 @default.
• W1985245021 hasConcept C537181965 @default.
• W1985245021 hasConcept C54355233 @default.
• W1985245021 hasConcept C551499885 @default.
• W1985245021 hasConcept C86803240 @default.
• W1985245021 hasConceptScore W1985245021C104317684 @default.
• W1985245021 hasConceptScore W1985245021C127716648 @default.
• W1985245021 hasConceptScore W1985245021C16671776 @default.
• W1985245021 hasConceptScore W1985245021C169760540 @default.
• W1985245021 hasConceptScore W1985245021C178790620 @default.
• W1985245021 hasConceptScore W1985245021C185592680 @default.
• W1985245021 hasConceptScore W1985245021C2777589315 @default.
• W1985245021 hasConceptScore W1985245021C2779500118 @default.
• W1985245021 hasConceptScore W1985245021C2780906641 @default.
• W1985245021 hasConceptScore W1985245021C501734568 @default.
• W1985245021 hasConceptScore W1985245021C50952357 @default.
• W1985245021 hasConceptScore W1985245021C537181965 @default.
• W1985245021 hasConceptScore W1985245021C54355233 @default.
• W1985245021 hasConceptScore W1985245021C551499885 @default.
• W1985245021 hasConceptScore W1985245021C86803240 @default.
• W1985245021 hasLocation W19852450211 @default.
• W1985245021 hasLocation W19852450212 @default.
• W1985245021 hasLocation W19852450213 @default.
• W1985245021 hasLocation W19852450214 @default.
• W1985245021 hasOpenAccess W1985245021 @default.
• W1985245021 hasPrimaryLocation W19852450211 @default.
• W1985245021 hasRelatedWork W1530402712 @default.
• W1985245021 hasRelatedWork W1911091815 @default.
• W1985245021 hasRelatedWork W2028080570 @default.
• W1985245021 hasRelatedWork W2053162673 @default.
• W1985245021 hasRelatedWork W2132993604 @default.
• W1985245021 hasRelatedWork W2143066563 @default.
• W1985245021 hasRelatedWork W2157166663 @default.
• W1985245021 hasRelatedWork W2461301799 @default.

• next