De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

doi:10.1186/s13229-021-00473-3

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Article

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Molecular autism - 26 Oct 2021

Royer-Bertrand Beryl, Jequier Gygax Marine, Cisarova Katarina, Rosenfeld Jill A, Bassetti Jennifer A, Moldovan Oana, O'Heir Emily, Burrage Lindsay C, Allen Jake, Emrick Lisa T, Eastman Emma, Kumps Camille, Abbas Safdar, Van Winckel Geraldine, Chabane Nadia, Zackai Elaine H, Lebon Sebastien, Keena Beth, Bhoj Elizabeth J, Umair Muhammad, Li Dong, Donald Kirsten A, Superti-Furga Andrea

Abstract excerpt

BACKGROUND: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. METHODS: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other...

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Identifiers

PMID: 34702355
DOI: 10.1186/s13229-021-00473-3
PMCID: PMC8547031

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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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