IndraLab

Statements


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reach
"This mutation impairs the voltage-dependent inactivation of CaV1.2, resulting in a sustained inward current that prolongs cardiac repolarization."

reach
"[XREF_BIBR] Timothy syndrome (TS) is an extremely rare multisystem form of LQTS caused by gain-of-function mutations that impair the voltage dependent inactivation of the CACNA1C encoded Cav1.2 channel resulting in an increased L-type Ca 2+ current (I Ca, L) during the plateau phase of the cardiac action potential (XREF_FIG) leading to a complex phenotype that includes variable degrees of autism spectrum disorder, syndactyly, and severe cardiac arrhythmias."

sparser
"This mutation impairs the voltage-dependent inactivation of CaV1.2, resulting in a sustained inward current that prolongs cardiac repolarization."

reach
"The LQTS8 electrical and Ca handling abnormalities could be ameliorated by roscovitine, a small molecule, that increases voltage-dependent inactivation of CaV1.2."

sparser
"The LQTS8 electrical and Ca 2+ handling abnormalities could be ameliorated by roscovitine, a small molecule, that increases voltage-dependent inactivation of CaV1.2. ( xref )."