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Article

CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms.

The Journal of general physiology - 7 Nov 2022

Bamgboye Moradeke A, Herold Kevin G, Vieira Daiana C O, Traficante Maria K, Rogers Philippa J, Ben-Johny Manu, Dick Ivy E

Abstract excerpt

The first pathogenic mutation in CaV1.2 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36167061
DOI: 10.1085/jgp.202213209
PMCID: PMC9524202

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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