Article

Ca <sub>V</sub> 1.2 channelopathic mutations evoke diverse pathophysiological mechanisms

2022-06-16

Abstract excerpt

The first pathogenic mutation in Ca V 1.2 was identified in 2004 and was shown to cause a severe multisystem disorder known as Timothy syndrome (TS). The mutation was localized to the distal S6 region of the channel, a region known to play a major role in channel activation. TS patients suffer from life-threatening cardiac symptoms as well as significant neurodevelopmental deficits including autism spectrum disor...

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Literature Corpus work: 5f9ece4b-72ab-575c-b69a-2005b9f1ec9d
DOI: 10.1101/2022.06.13.495975

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