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Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene.
Features include always present findings: Absent speech, Global developmental delay, Low muscle tone (hypotonia), and Epileptic spasm and others; and very common findings: Inability to walk. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 17 | Bilateral tonic-clonic seizure, Absent speech, Inability to walk |
Muscles | 3 | Low muscle tone (hypotonia), Generalized hypotonia, Diffuse cerebral atrophy |
DNM1 encodes dynamin 1 (864 aa). Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission and participates in many forms of endocytosis, such as clathrin-mediated endocytosis or synaptic vesicle endocytosis as well as rapid endocytosis (RE). Highest expression in Brain Cerebellum (373.8 TPM) and Brain Cerebellar Hemisphere (367.4 TPM).
Developmental and epileptic encephalopathy, 31A is associated with mutations in the DNM1 gene on chromosome 9.
DNM1 is classified as a druggable target (Enzyme category) with score 26.1.
Genetic testing for DNM1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for developmental and epileptic encephalopathy, 31A has been reported in the published literature.
Phenotype severity distribution: 6 always present features, 1 very common feature, 9 common features.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
104 publications have been identified in PubMed for developmental and epileptic encephalopathy, 31A. Research spans Epidemiology / Natural History (36%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 37 | 36% |
Research summaries | 24 | 23% |
Laboratory research | 15 | 14% |
Patient case studies | 9 | 9% |
Clinical study results | 8 | 8% |
Testing and diagnosis research | 6 | 6% |
New treatment approaches | 3 | 3% |
Other research | 2 | 2% |
GBD 2023 Mental Disorder Collaborators (2026). [PMID: 42167272](https://pubmed.ncbi.nlm.nih.gov/42167272/). *Lancet*. [Review / Meta-Analysis]
Keçeci R (2026). [PMID: 41899339](https://pubmed.ncbi.nlm.nih.gov/41899339/). *J Clin Med*. [Diagnostic / Biomarker]
Auvin S (2026). [PMID: 41729040](https://pubmed.ncbi.nlm.nih.gov/41729040/). *Epilepsia*. [Clinical Trial Publication]
Jadhav T (2026). [PMID: 42081271](https://pubmed.ncbi.nlm.nih.gov/42081271/). *Epilepsia Open*. [Clinical Trial Publication]
Tian X (2026). [PMID: 41617776](https://pubmed.ncbi.nlm.nih.gov/41617776/). *Pediatr Res*. [Epidemiology / Natural History]
Młynek M (2026). [PMID: 41898790](https://pubmed.ncbi.nlm.nih.gov/41898790/). *Genes (Basel)*. [Epidemiology / Natural History]
Vasilevsky N (2026). [PMID: 41697974](https://pubmed.ncbi.nlm.nih.gov/41697974/). *Database (Oxford)*. [Other]
Chen J (2026). [PMID: 41762485](https://pubmed.ncbi.nlm.nih.gov/41762485/). *Epilepsy Res*. [Epidemiology / Natural History]
Bayanova M (2026). [PMID: 42194586](https://pubmed.ncbi.nlm.nih.gov/42194586/). *J Clin Med*. [Basic Science / Preclinical]
Hu X (2026). [PMID: 41683437](https://pubmed.ncbi.nlm.nih.gov/41683437/). *Molecules*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:08 AM UTC
Online Mendelian Inheritance in Man
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