Matches in SemOpenAlex for { <https://semopenalex.org/work/W1498701032> ?p ?o ?g. }
- W1498701032 endingPage "149" @default.
- W1498701032 startingPage "133" @default.
- W1498701032 abstract "Mutations in the SCN5A gene are responsible for multiple phenotypical presentations including Brugada syndrome, long QT syndrome, progressive familial heart block, sick sinus syndrome, dilated cardiomyopathy, lone atrial fibrillation and multiple overlap syndromes. These different phenotypic expressions of a mutation in a single gene can be explained by variable expression and reduced penetrance. One of the possible explanations of these phenomena is the co-inheritance of genetic variants. We describe a family where the individuals exhibit a compound heterozygosity in the SCN5A gene including a mutation (R1632H) and a new variant (M858L). Individuals with both the mutation and new variant present with a more severe phenotype including spontaneous atrial tachyarrhythmia at young age. We give an overview of the different phenotypes of SCN5A disease and discuss the importance of co-inherited genetic variants in the expression of SCN5A disease." @default.
- W1498701032 created "2016-06-24" @default.
- W1498701032 creator A5010382052 @default.
- W1498701032 creator A5019955596 @default.
- W1498701032 creator A5040475489 @default.
- W1498701032 creator A5060361931 @default.
- W1498701032 creator A5075724292 @default.
- W1498701032 creator A5088193167 @default.
- W1498701032 creator A5089715405 @default.
- W1498701032 date "2014-05-01" @default.
- W1498701032 modified "2023-10-17" @default.
- W1498701032 title "Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature" @default.
- W1498701032 cites W1489130191 @default.
- W1498701032 cites W1491803208 @default.
- W1498701032 cites W1507105217 @default.
- W1498701032 cites W1598538024 @default.
- W1498701032 cites W1967346563 @default.
- W1498701032 cites W1969936538 @default.
- W1498701032 cites W1984153793 @default.
- W1498701032 cites W1985898469 @default.
- W1498701032 cites W1988441324 @default.
- W1498701032 cites W1989115606 @default.
- W1498701032 cites W1997999453 @default.
- W1498701032 cites W1998419541 @default.
- W1498701032 cites W1999765072 @default.
- W1498701032 cites W2005147855 @default.
- W1498701032 cites W2010449776 @default.
- W1498701032 cites W2012838115 @default.
- W1498701032 cites W2016947365 @default.
- W1498701032 cites W2021095297 @default.
- W1498701032 cites W2024321308 @default.
- W1498701032 cites W2025760921 @default.
- W1498701032 cites W2026443614 @default.
- W1498701032 cites W2031251533 @default.
- W1498701032 cites W2032090085 @default.
- W1498701032 cites W2040996722 @default.
- W1498701032 cites W2044989893 @default.
- W1498701032 cites W2046830279 @default.
- W1498701032 cites W2055685000 @default.
- W1498701032 cites W2057174913 @default.
- W1498701032 cites W2057425349 @default.
- W1498701032 cites W2057902453 @default.
- W1498701032 cites W2058966262 @default.
- W1498701032 cites W2065840258 @default.
- W1498701032 cites W2066096265 @default.
- W1498701032 cites W2066861842 @default.
- W1498701032 cites W2067938307 @default.
- W1498701032 cites W2068082679 @default.
- W1498701032 cites W2068587479 @default.
- W1498701032 cites W2069638796 @default.
- W1498701032 cites W2073084279 @default.
- W1498701032 cites W2073709523 @default.
- W1498701032 cites W2074781011 @default.
- W1498701032 cites W2077541051 @default.
- W1498701032 cites W2080397690 @default.
- W1498701032 cites W2080550539 @default.
- W1498701032 cites W2082626069 @default.
- W1498701032 cites W2083421309 @default.
- W1498701032 cites W2083480024 @default.
- W1498701032 cites W2083714051 @default.
- W1498701032 cites W2094462211 @default.
- W1498701032 cites W2096617955 @default.
- W1498701032 cites W2097979065 @default.
- W1498701032 cites W2106326075 @default.
- W1498701032 cites W2110217195 @default.
- W1498701032 cites W2112091653 @default.
- W1498701032 cites W2112284836 @default.
- W1498701032 cites W2118342194 @default.
- W1498701032 cites W2127965368 @default.
- W1498701032 cites W2128734390 @default.
- W1498701032 cites W2134949933 @default.
- W1498701032 cites W2137694665 @default.
- W1498701032 cites W2138556927 @default.
- W1498701032 cites W2139068352 @default.
- W1498701032 cites W2139997566 @default.
- W1498701032 cites W2144423360 @default.
- W1498701032 cites W2146410202 @default.
- W1498701032 cites W2148036689 @default.
- W1498701032 cites W2150777135 @default.
- W1498701032 cites W2151361417 @default.
- W1498701032 cites W2151498231 @default.
- W1498701032 cites W2156937709 @default.
- W1498701032 cites W2157409138 @default.
- W1498701032 cites W2166897240 @default.
- W1498701032 cites W2167810585 @default.
- W1498701032 cites W2168377918 @default.
- W1498701032 cites W2168574959 @default.
- W1498701032 cites W2168633437 @default.
- W1498701032 cites W2170828372 @default.
- W1498701032 cites W220488953 @default.
- W1498701032 cites W2548415391 @default.
- W1498701032 cites W2616249537 @default.
- W1498701032 cites W4238589708 @default.
- W1498701032 cites W4294236164 @default.
- W1498701032 doi "https://doi.org/10.1016/s0972-6292(16)30754-9" @default.
- W1498701032 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4032780" @default.
- W1498701032 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24948852" @default.
- W1498701032 hasPublicationYear "2014" @default.