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developmental and epileptic encephalopathy, 39 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Seizure, Severe muscular hypotonia, Cerebral hypomyelination, and Reduced brain N-acetyl aspartate level by MRS and others; and common findings: Poor head control, Narrow palate, Jejunal atresia, and Low muscle tone (hypotonia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Seizure, Cerebral hypomyelination, Reduced brain N-acetyl aspartate level by MRS
Head and neck	5	Narrow palate, Secondary microcephaly, Primary microcephaly
Muscles	5	Low muscle tone (hypotonia), Severe muscular hypotonia, Type 1 muscle fiber predominance
Heart and blood vessels	1	Right ventricular hypertrophy
Lab test results	1	Increased circulating lactate concentration
Arms and legs	1	Tapered finger
Ears	1	Chronic otitis media
Lungs and breathing	1	Apnea

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, 39.

73 publications have been identified in PubMed for developmental and epileptic encephalopathy, 39. Research spans Epidemiology / Natural History (28%), Review / Meta-Analysis (21%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Disease patterns and progression	20	28%
Research summaries	15	21%
Clinical study results	10	14%
Laboratory research	9	13%
Patient case studies	7	10%
Testing and diagnosis research	6	8%
New treatment approaches	4	6%

Recent Publications

Eschbach K (2026). [PMID: 41702214](https://pubmed.ncbi.nlm.nih.gov/41702214/). *Epilepsy Behav*. [Clinical Trial Publication]
Massaroni V (2026). [PMID: 42001857](https://pubmed.ncbi.nlm.nih.gov/42001857/). *Epilepsy Behav*. [Basic Science / Preclinical]
Akkus N (2026). [PMID: 41507692](https://pubmed.ncbi.nlm.nih.gov/41507692/). *Mol Genet Genomic Med*. [Gene Therapy / Novel Therapeutics]
Murano M (2026). [PMID: 42196434](https://pubmed.ncbi.nlm.nih.gov/42196434/). *Int J Mol Sci*. [Review / Meta-Analysis]
Manav Yigit Z (2026). [PMID: 41545183](https://pubmed.ncbi.nlm.nih.gov/41545183/). *J Med Genet*. [Case Report / Case Series]
Młynek M (2026). [PMID: 41898790](https://pubmed.ncbi.nlm.nih.gov/41898790/). *Genes (Basel)*. [Basic Science / Preclinical]
Kang K (2026). [PMID: 41612684](https://pubmed.ncbi.nlm.nih.gov/41612684/). *Can J Neurol Sci*. [Basic Science / Preclinical]
Karnstedt M (2026). [PMID: 41489401](https://pubmed.ncbi.nlm.nih.gov/41489401/). *Epilepsia*. [Gene Therapy / Novel Therapeutics]
Adler S (2026). [PMID: 41715296](https://pubmed.ncbi.nlm.nih.gov/41715296/). *Curr Opin Neurol*. [Review / Meta-Analysis]
Dell'Isola GB (2026). [PMID: 41739881](https://pubmed.ncbi.nlm.nih.gov/41739881/). *Epilepsia Open*. [Epidemiology / Natural History]

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developmental and epileptic encephalopathy, 39

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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developmental and epileptic encephalopathy, 39

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team