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developmental and epileptic encephalopathy, 31B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 31B

MONDO:0957248

Also known as:DNM1-encephalopathy and neurodevelopmental disorderDEE31Bdevelopmental and epileptic encephalopathy 31B, autosomal recessive

Overview

Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene.

GeneticsAutosomal recessive · DNM1 (chr 9)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Poor head control, Narrow forehead, Clonus, and Hypsarrhythmia and others; and common findings: Agenesis of corpus callosum, Broad face, Generalized hypotonia, and Widened subarachnoid space and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Clonus, Seizure, Myoclonic seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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, 31B is associated with mutations in the DNM1 gene on chromosome 9.

DNM1 is classified as a druggable target (Enzyme category) with score 26.1.

Diagnosis

Genetic testing for DNM1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 always present features, 19 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for developmental and epileptic encephalopathy, 31B.

1 publication has been identified in PubMed for developmental and epileptic encephalopathy, 31B. Research spans Review / Meta-Analysis (100%).

Recent Publications

Vasilevsky N (2026). [PMID: 41697974](https://pubmed.ncbi.nlm.nih.gov/41697974/). *Database : the journal of biological databases and curation*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620352

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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developmental and epileptic encephalopathy, 31B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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