Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313488239> ?p ?o ?g. }
- W4313488239 endingPage "181" @default.
- W4313488239 startingPage "159" @default.
- W4313488239 abstract "The CACNA1C gene encodes the pore-forming subunit of the CaV1.2 L-type Ca2+ channel, a critical component of membrane physiology in multiple tissues, including the heart, brain, and immune system. As such, mutations altering the function of these channels have the potential to impact a wide array of cellular functions. The first mutations identified within CACNA1C were shown to cause a severe, multisystem disorder known as Timothy syndrome (TS), which is characterized by neurodevelopmental deficits, long-QT syndrome, life-threatening cardiac arrhythmias, craniofacial abnormalities, and immune deficits. Since this initial description, the number and variety of disease-associated mutations identified in CACNA1C have grown tremendously, expanding the range of phenotypes observed in affected patients. CACNA1C channelopathies are now known to encompass multisystem phenotypes as described in TS, as well as more selective phenotypes where patients may exhibit predominantly cardiac or neurological symptoms. Here, we review the impact of genetic mutations on CaV1.2 function and the resultant physiological consequences." @default.
- W4313488239 created "2023-01-06" @default.
- W4313488239 creator A5006064421 @default.
- W4313488239 creator A5037422941 @default.
- W4313488239 creator A5078132595 @default.
- W4313488239 date "2023-01-01" @default.
- W4313488239 modified "2023-10-18" @default.
- W4313488239 title "CACNA1C-Related Channelopathies" @default.
- W4313488239 cites W1483083087 @default.
- W4313488239 cites W1486098902 @default.
- W4313488239 cites W1502039493 @default.
- W4313488239 cites W1510194880 @default.
- W4313488239 cites W1679168062 @default.
- W4313488239 cites W1868387214 @default.
- W4313488239 cites W1918750526 @default.
- W4313488239 cites W1921440755 @default.
- W4313488239 cites W1965112376 @default.
- W4313488239 cites W1967440935 @default.
- W4313488239 cites W1968449420 @default.
- W4313488239 cites W1972789241 @default.
- W4313488239 cites W1973892949 @default.
- W4313488239 cites W1974659994 @default.
- W4313488239 cites W1976320686 @default.
- W4313488239 cites W1980153807 @default.
- W4313488239 cites W1981744250 @default.
- W4313488239 cites W1983362094 @default.
- W4313488239 cites W1984115582 @default.
- W4313488239 cites W1987690552 @default.
- W4313488239 cites W1987977850 @default.
- W4313488239 cites W1988192933 @default.
- W4313488239 cites W1988201451 @default.
- W4313488239 cites W1989524155 @default.
- W4313488239 cites W1991031899 @default.
- W4313488239 cites W1993588417 @default.
- W4313488239 cites W1993793437 @default.
- W4313488239 cites W2003969343 @default.
- W4313488239 cites W2008990874 @default.
- W4313488239 cites W2009359462 @default.
- W4313488239 cites W2009870567 @default.
- W4313488239 cites W2010339131 @default.
- W4313488239 cites W2010481540 @default.
- W4313488239 cites W2011424619 @default.
- W4313488239 cites W2013616449 @default.
- W4313488239 cites W2017492952 @default.
- W4313488239 cites W2018632947 @default.
- W4313488239 cites W2019028325 @default.
- W4313488239 cites W2023164168 @default.
- W4313488239 cites W2023721895 @default.
- W4313488239 cites W2025551837 @default.
- W4313488239 cites W2026404421 @default.
- W4313488239 cites W2028076640 @default.
- W4313488239 cites W2029750615 @default.
- W4313488239 cites W2033035468 @default.
- W4313488239 cites W2033877733 @default.
- W4313488239 cites W2043766679 @default.
- W4313488239 cites W2044873676 @default.
- W4313488239 cites W2046197357 @default.
- W4313488239 cites W2050453763 @default.
- W4313488239 cites W2050867219 @default.
- W4313488239 cites W2053850273 @default.
- W4313488239 cites W2057150797 @default.
- W4313488239 cites W2057198039 @default.
- W4313488239 cites W2057932313 @default.
- W4313488239 cites W2058950168 @default.
- W4313488239 cites W2061220110 @default.
- W4313488239 cites W2070181496 @default.
- W4313488239 cites W2071191386 @default.
- W4313488239 cites W2072598066 @default.
- W4313488239 cites W2073223574 @default.
- W4313488239 cites W2073634868 @default.
- W4313488239 cites W2074851919 @default.
- W4313488239 cites W2077936658 @default.
- W4313488239 cites W2079755309 @default.
- W4313488239 cites W2084971383 @default.
- W4313488239 cites W2086887716 @default.
- W4313488239 cites W2089827503 @default.
- W4313488239 cites W2089861793 @default.
- W4313488239 cites W2095087615 @default.
- W4313488239 cites W2098525901 @default.
- W4313488239 cites W2107242483 @default.
- W4313488239 cites W2118095155 @default.
- W4313488239 cites W2122796918 @default.
- W4313488239 cites W2123350196 @default.
- W4313488239 cites W2127442418 @default.
- W4313488239 cites W2127833859 @default.
- W4313488239 cites W2128103118 @default.
- W4313488239 cites W2132853862 @default.
- W4313488239 cites W2134362683 @default.
- W4313488239 cites W2138412157 @default.
- W4313488239 cites W2138645553 @default.
- W4313488239 cites W2138773108 @default.
- W4313488239 cites W2139695427 @default.
- W4313488239 cites W2139852368 @default.
- W4313488239 cites W2148529262 @default.
- W4313488239 cites W2152717615 @default.
- W4313488239 cites W2159332152 @default.
- W4313488239 cites W2159914685 @default.
- W4313488239 cites W2164181371 @default.