Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
DNM1-encephalopathy and neurodevelopmental disorder - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
DNM1-encephalopathy and neurodevelopmental disorder
MONDO:0700339
Also known as:DNM1-related DEEDNM1-related developmental and epileptic encephalopathy
Overview
A developmental and epileptic encephalopathy in which the cause of the disease is a variation in the DNM1 gene.
ResearchLimited published research (8 articles)
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 DNM1-encephalopathy and neurodevelopmental disorder.
8 publications have been identified in PubMed for DNM1-encephalopathy and neurodevelopmental disorder. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (38%), and Basic Science / Preclinical (13%).
Recent Publications
Drackley A (2026). [PMID: 41340537](https://pubmed.ncbi.nlm.nih.gov/41340537/). *Am J Med Genet A*. [Case Report / Case Series]
Harrison AG (2026). [PMID: 42006794](https://pubmed.ncbi.nlm.nih.gov/42006794/). *medRxiv*. [Basic Science / Preclinical]
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?
FAQ
Frequently Asked Questions
Common questions about DNM1-encephalopathy and neurodevelopmental disorder
DNM1-encephalopathy and neurodevelopmental disorder is a rare condition caused by a variation in the DNM1 gene. This condition falls under a group of disorders known as developmental and epileptic encephalopathies, which affect brain development and function.
People with this condition may experience difficulties in brain development and have seizures because of the genetic change. While the detailed spectrum of features is still being understood, ongoing research aims to shed more light on how variations in the DNM1 gene impact brain health.
Information about symptoms is currently limited for this condition.
This condition is caused by a variation in the DNM1 gene. The change in this gene affects brain development, leading to the features observed in the disorder. Detailed genetic risk factors beyond this variation are not well established in the current information. Associated genes include DNM1.
Approximately 7,000 rare diseases collectively affect an estimated 300 million people worldwide, yet fewer than 5 percent of these conditions have an approved therapy. Drug development for rare neurological and neurodevelopmental disorders presents unique ethical challenges that distinguish ... Approximately 7,000 rare diseases collectively affect an estimated 300 million people worldwide, yet fewer than 5 percent of these conditions have an approved therapy. Drug development for rare neurological and neurodevelopmental disorders presents unique ethical challenges that distinguish it from clinical research in more prevalent conditions. The rarity and heterogeneity of these disorders necessitate trial designs that depart from conventional randomized controlled trial paradigms, raising important questions about equipoise, placebo use, informed consent, data sharing, and equitable access. In this position paper of the International Society of CNS Clinical Trials and Methodology (ISCTM), the Orphan Diseases Working Group examines key ethical considerations specific to rare disease neuroscience clinical trials. We address the challenges of maintaining clinical equipoise in small, often heterogenous populations; the justification and limitations of placebo-controlled designs; the ethical complexities introduced by gene therapies and other biologics, including consent, assent, and participation of vulnerable populations; the imperative for responsible data sharing and transparent communication with patient advocacy organizations; and best practices for compassionate use programs. Orphanet Journal of Rare Diseases - Approximately 7,000 rare diseases collectively affect an estimated 300 million people worldwide, yet fewer than 5 percent of these conditions have an approved... ISCTM is an independent multidisciplinary organization, however, its orphan disease working group members also serve additional roles as trialists employed by Sponsor companies, contract research organizations, and academic institutions. Opinions and recommendations expressed are informed by decades of planning and conducting rare disease clinical trials in these settings.
