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Article

A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.

Pediatric neurology - 1 Jan 2023

Levy Rebecca J, Timothy Katherine W, Underwood Jack F G, Hall Jeremy, Bernstein Jonathan A, Pașca Sergiu P

Abstract excerpt

BACKGROUND: CACNA1C encodes the voltage-gated L-type calcium channel CaV1.2. A specific gain-of-function pathogenic variant in CACNA1C causes Timothy syndrome type 1 (TS1) with cardiac long QT syndrome, syndactyly, and neuropsychiatric symptoms. Our previous work found that the TS1 mutation alters neuronal activity-dependent signaling and interneuron migration. Recent case series highlighted a broader spectrum of...

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Identifiers

PMID: 36436328
DOI: 10.1016/j.pediatrneurol.2022.10.013

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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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