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Article

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Clinical genetics - 1 Mar 2024

Al-Kateb Hussam, Au P Y Billie, Berland Siren, Cogne Benjamin, Demurger Florence, Fluss Joel, Isidor Bertrand, Frank L Matthew, Varvagiannis Konstantinos, Koolen David A, McDonald Marie, Montgomery Sarah, Moortgat Stéphanie, Deprez Marie, Karadurmus Deniz, Paulsen Julie, Reis André, Rieger Melissa, Vasileiou Georgia, Willing Marcia, Shinawi Marwan

Abstract excerpt

Calmodulin-binding transcriptional activator 1 (CAMTA1) is highly expressed in the brain and plays a role in cell cycle regulation, cell differentiation, regulation of long-term memory, and initial development, maturation, and survival of cerebellar neurons. The existence of human neurological phenotypes, including cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA), associated...

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Source

Identifiers

PMID: 38044714
DOI: 10.1111/cge.14464

Genes

CAMTA1

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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CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.PMID 38044714Read ↗

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.Semantic proximity Read ↗

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Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.Semantic proximity Read ↗

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.Semantic proximity Read ↗

CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia.Semantic proximity Read ↗

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.Semantic proximity Read ↗

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