FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2042531363> ?p ?o ?g. }

• W2042531363 endingPage "1932" @default.
• W2042531363 startingPage "1932" @default.
• W2042531363 abstract "To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S).Hypokalemic periodic paralysis is primarily caused by mutations within CACNA1S. Genetic heterogeneity for HOKPP has been reported, but no other locus has been identified.Single-stranded conformational polymorphism (SSCP) analysis and PCR direct sequencing were used to screen the skeletal muscle alpha1-sodium channel gene (SCN4A) for a mutation in our family.SSCP analysis showed an abnormally migrating conformer in exon 12. Direct sequencing of the conformer showed a guanine to adenine transition at position 2006 in the cDNA sequence; this results in an amino acid substitution of a highly conserved arginine (Arg) to histidine (His) at position 669. This sequence alteration segregated only with the affected members of the kindred and was not found in a panel of 100 DNA samples from healthy controls. The amino acid substitution alters the outermost positive charge in the membrane spanning segment DII/S4, which is involved in voltage sensing.The first arginine in DII/S4 and in DIV/S4 within the skeletal muscle sodium channel and the L-type calcium channel genie CACNA1S appear to be critical for normal function. In all four cases, Arg to His mutations result in a disease phenotype. The identification of a mutation within the skeletal muscle sodium channel resulting in hypokalemic periodic paralysis represents a novel finding." @default.
• W2042531363 created "2016-06-24" @default.
• W2042531363 creator A5000324624 @default.
• W2042531363 creator A5012846191 @default.
• W2042531363 creator A5031885857 @default.
• W2042531363 creator A5032865712 @default.
• W2042531363 creator A5034935793 @default.
• W2042531363 creator A5056775376 @default.
• W2042531363 creator A5071746137 @default.
• W2042531363 date "1999-12-01" @default.
• W2042531363 modified "2023-10-11" @default.
• W2042531363 title "A novel sodium channel mutation in a family with hypokalemic periodic paralysis" @default.
• W2042531363 cites W1494587618 @default.
• W2042531363 cites W1975768173 @default.
• W2042531363 cites W1987026484 @default.
• W2042531363 cites W1996027687 @default.
• W2042531363 cites W1998170319 @default.
• W2042531363 cites W2003275821 @default.
• W2042531363 cites W2022614248 @default.
• W2042531363 cites W2034169322 @default.
• W2042531363 cites W2052107978 @default.
• W2042531363 cites W2060835899 @default.
• W2042531363 cites W2076587206 @default.
• W2042531363 cites W2081980989 @default.
• W2042531363 cites W2090558300 @default.
• W2042531363 cites W2100741949 @default.
• W2042531363 cites W2129205954 @default.
• W2042531363 cites W2130234511 @default.
• W2042531363 cites W2131863464 @default.
• W2042531363 cites W2134217426 @default.
• W2042531363 cites W2135381862 @default.
• W2042531363 cites W2139528954 @default.
• W2042531363 cites W2143319028 @default.
• W2042531363 cites W2153907158 @default.
• W2042531363 cites W2165877600 @default.
• W2042531363 cites W2166639546 @default.
• W2042531363 cites W2327690082 @default.
• W2042531363 cites W2417514756 @default.
• W2042531363 cites W3146600623 @default.
• W2042531363 doi "https://doi.org/10.1212/wnl.53.9.1932" @default.
• W2042531363 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10599760" @default.
• W2042531363 hasPublicationYear "1999" @default.
• W2042531363 type Work @default.
• W2042531363 sameAs 2042531363 @default.
• W2042531363 citedByCount "176" @default.
• W2042531363 countsByYear W20425313632012 @default.
• W2042531363 countsByYear W20425313632013 @default.
• W2042531363 countsByYear W20425313632014 @default.
• W2042531363 countsByYear W20425313632015 @default.
• W2042531363 countsByYear W20425313632016 @default.
• W2042531363 countsByYear W20425313632017 @default.
• W2042531363 countsByYear W20425313632018 @default.
• W2042531363 countsByYear W20425313632019 @default.
• W2042531363 countsByYear W20425313632020 @default.
• W2042531363 countsByYear W20425313632021 @default.
• W2042531363 countsByYear W20425313632022 @default.
• W2042531363 countsByYear W20425313632023 @default.
• W2042531363 crossrefType "journal-article" @default.
• W2042531363 hasAuthorship W2042531363A5000324624 @default.
• W2042531363 hasAuthorship W2042531363A5012846191 @default.
• W2042531363 hasAuthorship W2042531363A5031885857 @default.
• W2042531363 hasAuthorship W2042531363A5032865712 @default.
• W2042531363 hasAuthorship W2042531363A5034935793 @default.
• W2042531363 hasAuthorship W2042531363A5056775376 @default.
• W2042531363 hasAuthorship W2042531363A5071746137 @default.
• W2042531363 hasConcept C104317684 @default.
• W2042531363 hasConcept C129219603 @default.
• W2042531363 hasConcept C134018914 @default.
• W2042531363 hasConcept C141071460 @default.
• W2042531363 hasConcept C178790620 @default.
• W2042531363 hasConcept C185592680 @default.
• W2042531363 hasConcept C2776532573 @default.
• W2042531363 hasConcept C2777468819 @default.
• W2042531363 hasConcept C2778242168 @default.
• W2042531363 hasConcept C2779618896 @default.
• W2042531363 hasConcept C2779959927 @default.
• W2042531363 hasConcept C2781079590 @default.
• W2042531363 hasConcept C36823959 @default.
• W2042531363 hasConcept C501734568 @default.
• W2042531363 hasConcept C50952357 @default.
• W2042531363 hasConcept C515207424 @default.
• W2042531363 hasConcept C537181965 @default.
• W2042531363 hasConcept C54355233 @default.
• W2042531363 hasConcept C71924100 @default.
• W2042531363 hasConcept C75563809 @default.
• W2042531363 hasConcept C86803240 @default.
• W2042531363 hasConceptScore W2042531363C104317684 @default.
• W2042531363 hasConceptScore W2042531363C129219603 @default.
• W2042531363 hasConceptScore W2042531363C134018914 @default.
• W2042531363 hasConceptScore W2042531363C141071460 @default.
• W2042531363 hasConceptScore W2042531363C178790620 @default.
• W2042531363 hasConceptScore W2042531363C185592680 @default.
• W2042531363 hasConceptScore W2042531363C2776532573 @default.
• W2042531363 hasConceptScore W2042531363C2777468819 @default.
• W2042531363 hasConceptScore W2042531363C2778242168 @default.
• W2042531363 hasConceptScore W2042531363C2779618896 @default.
• W2042531363 hasConceptScore W2042531363C2779959927 @default.
• W2042531363 hasConceptScore W2042531363C2781079590 @default.

• next