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Article

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Human molecular genetics - 1 Aug 2017

Pinggera Alexandra, Mackenroth Luisa, Rump Andreas, Schallner Jens, Beleggia Filippo, Wollnik Bernd, Striessnig Jörg

Abstract excerpt

CACNA1D encodes the pore-forming α1-subunit of Cav1.3, an L-type voltage-gated Ca2+-channel. Despite the recent discovery of two de novo missense gain-of-function mutations in Cav1.3 in two individuals with autism spectrum disorder (ASD) and intellectual disability CACNA1D has not been considered a prominent ASD-risk gene in large scale genetic analyses, since such studies primarily focus on likely-disruptive...

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Source

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Identifiers

PMID: 28472301
DOI: 10.1093/hmg/ddx175
PMCID: PMC5886262

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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