CAMTA1 encodes calmodulin binding transcription activator 1 (1,673 aa). Transcriptional activator Highest expression in Brain Cerebellar Hemisphere (52.8 TPM) and Brain Cerebellum (35.2 TPM).

Cerebellar dysfunction with variable cognitive and behavioral abnormalities is caused by mutations in the CAMTA1 gene on chromosome 1.

CAMTA1 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 0.0.

Genetic testing for CAMTA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cerebellar dysfunction with variable cognitive and behavioral abnormalities has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 4 very common features, 35 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for cerebellar dysfunction with variable cognitive and behavioral abnormalities.

22 publications have been identified in PubMed for cerebellar dysfunction with variable cognitive and behavioral abnormalities. Research spans Case Report / Case Series (68%), Diagnostic / Biomarker (9%), and Review / Meta-Analysis (9%).

Recent Publications

• Terman E (2026). [PMID: 41909052](https://pubmed.ncbi.nlm.nih.gov/41909052/). *Frontiers in child and adolescent psychiatry*. [Review / Meta-Analysis]

• Peter B (2026). [PMID: 40891523](https://pubmed.ncbi.nlm.nih.gov/40891523/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Ahmad S (2026). [PMID: 41649149](https://pubmed.ncbi.nlm.nih.gov/41649149/). *Clinical dysmorphology*. [Case Report / Case Series]

• Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain : a journal of neurology*. [Case Report / Case Series]

• Lee SY (2026). [PMID: 40921433](https://pubmed.ncbi.nlm.nih.gov/40921433/). *Clinical genetics*. [Case Report / Case Series]

• Jawabri AA (2026). [PMID: 42051465](https://pubmed.ncbi.nlm.nih.gov/42051465/). *Hum Mutat*. [Case Report / Case Series]

• Liu F (2026). [PMID: 41562293](https://pubmed.ncbi.nlm.nih.gov/41562293/). *Mov Disord*. [Diagnostic / Biomarker]

• Kalayinia S (2025). [PMID: 39931767](https://pubmed.ncbi.nlm.nih.gov/39931767/). *Molecular genetics &amp; genomic medicine*. [Case Report / Case Series]

• Maroofian R (2025). [PMID: 40879451](https://pubmed.ncbi.nlm.nih.gov/40879451/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]

• Türkdoğan D (2025). [PMID: 39704271](https://pubmed.ncbi.nlm.nih.gov/39704271/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]