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Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.
Features include always present findings: Hypertonia, Poor head control, Hypsarrhythmia, and Delayed CNS myelination and others; and common findings: Micropenis, Erratic myoclonus, Spastic tetraparesis, and Focal motor seizure and others. 32 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 16 | Dystonia, Generalized myoclonic seizure, Global brain atrophy |
Muscles | 2 | Global brain atrophy, Axial hypotonia |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Head and neck | 1 | Microcephaly |
Lungs and breathing | 1 | Dyspnea |
Growth and development | 1 | Growth delay |
Age of onset: newborn period.
ARX encodes aristaless related homeobox (562 aa). Transcription factor. Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C. Positively modulates transcription of KDM5C. Highest expression in Ovary (139.1 TPM) and Brain Anterior cingulate cortex BA24 (11.7 TPM).
Developmental and epileptic encephalopathy, 1 is associated with mutations in the ARX gene on chromosome X.
The ARX protein participates in SLIT2 gene expression is stimulated by ISL1 and Primary multipotent pancreatic progenitor cell produces trunk bipotent pancreatic progenitor cell pathways.
ARX is classified as a druggable target (Transcription Factor category) with score 0.0.
Genetic testing for ARX is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 17 always present features, 6 common features.
1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE3. Research is primarily industry-sponsored.
6 publications have been identified in PubMed for developmental and epileptic encephalopathy, 1. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).
Johnson CM (2026). [PMID: 41390005](https://pubmed.ncbi.nlm.nih.gov/41390005/). *Exp Neurol*. [Basic Science / Preclinical]
Scott RC (2025). [PMID: 40161506](https://pubmed.ncbi.nlm.nih.gov/40161506/). *Epilepsy Curr*. [Review / Meta-Analysis]
Modgil A (2025). [PMID: 41175509](https://pubmed.ncbi.nlm.nih.gov/41175509/). *Seizure*. [Review / Meta-Analysis]
Verrillo L (2025). [PMID: 40608247](https://pubmed.ncbi.nlm.nih.gov/40608247/). *Epilepsia*. [Basic Science / Preclinical]
Barbour K (2024). [PMID: 38795333](https://pubmed.ncbi.nlm.nih.gov/38795333/). *Epilepsia*. [Epidemiology / Natural History]
Akula SK (2024). [PMID: 38711225](https://pubmed.ncbi.nlm.nih.gov/38711225/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC
Online Mendelian Inheritance in Man
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