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Article

An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior.

PLoS genetics - 1 Dec 2019

Buddell Tyler, Friedman Vladislav, Drozd Cody J, Quinn Christopher C

Abstract excerpt

Common and rare variants of the CACNA1C voltage-gated calcium channel gene have been associated with autism and other neurodevelopmental disorders including schizophrenia, bipolar disorder and ADHD. However, little is known about how CACNA1C variants affect cellular processes to alter neurodevelopment. The Timothy syndrome mutation is a rare de novo gain-of-function variant in CACNA1C that causes autism with high...

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Identifiers

PMID: 31805042
DOI: 10.1371/journal.pgen.1008488
PMCID: PMC6894750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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