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Features include always present findings: Global developmental delay; and common findings: Delayed speech and language development, Delayed CNS myelination, Reduced cerebral white matter volume, and Seizure and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Delayed speech and language development, Reduced cerebral white matter volume, Seizure |
ARF1 encodes ARF GTPase 1 (181 aa). Small GTPase involved in protein trafficking between different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Highest expression in Artery Aorta (423.3 TPM) and Cells Cultured fibroblasts (420.3 TPM).
Periventricular nodular heterotopia 8 is associated with mutations in the ARF1 gene on chromosome 1.
The ARF1 protein participates in PLEKHA3,8 bind PI4P, ARF1, CYTH proteins stimulate ARF1 GTPase activity, and CYTH proteins bind ARF1:GTP pathways.
ARF1 is classified as a druggable target with score 1.9.
Genetic testing for ARF1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 7 common features.
No clinical trials have been registered for periventricular nodular heterotopia 8.
13 publications have been identified in PubMed for periventricular nodular heterotopia 8. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (23%), and Case Report / Case Series (23%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 4 | 31% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Muscles |
1 |
Cerebellar vermis atrophy |
Research summaries
3 |
23% |
Patient case studies | 3 | 23% |
Laboratory research | 2 | 15% |
Clinical study results | 1 | 8% |
Song J (2026). [PMID: 42067951](https://pubmed.ncbi.nlm.nih.gov/42067951/). *Acta Epileptol*. [Review / Meta-Analysis]
Hadi E (2026). [PMID: 41987549](https://pubmed.ncbi.nlm.nih.gov/41987549/). *Ultrasound Obstet Gynecol*. [Basic Science / Preclinical]
Hoogwijs I (2026). [PMID: 41468712](https://pubmed.ncbi.nlm.nih.gov/41468712/). *Eur J Paediatr Neurol*. [Case Report / Case Series]
Maeda M (2025). [PMID: 40047103](https://pubmed.ncbi.nlm.nih.gov/40047103/). *Traffic*. [Review / Meta-Analysis]
Lang J (2025). [PMID: 40128408](https://pubmed.ncbi.nlm.nih.gov/40128408/). *EMBO Rep*. [Basic Science / Preclinical]
Lian R (2025). [PMID: 40689678](https://pubmed.ncbi.nlm.nih.gov/40689678/). *J Cell Mol Med*. [Case Report / Case Series]
Moradi B (2025). [PMID: 40231715](https://pubmed.ncbi.nlm.nih.gov/40231715/). *J Clin Ultrasound*. [Epidemiology / Natural History]
Brambila-Tapia AJL (2025). [PMID: 40869917](https://pubmed.ncbi.nlm.nih.gov/40869917/). *Genes (Basel)*. [Case Report / Case Series]
Arenivas A (2025). [PMID: 39978087](https://pubmed.ncbi.nlm.nih.gov/39978087/). *Epilepsy Behav*. [Epidemiology / Natural History]
Stourm L (2025). [PMID: 39510553](https://pubmed.ncbi.nlm.nih.gov/39510553/). *Eur Respir J*. [Epidemiology / Natural History]
AI-curated news mentioning periventricular nodular heterotopia 8
Updated May 2, 2026
Recent research identifies gene variants associated with periventricular nodular heterotopia, enhancing understanding of this neurological condition. The findings may inform future genetic testing and therapeutic strategies.