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developmental and epileptic encephalopathy, 85, with or without midline brain defects - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Bilateral tonic-clonic seizure, Seizure, Absent speech
Head and neck	7	Round face, Solitary median maxillary central incisor, Microcephaly
Arms and legs	5	Short foot, Tapered finger, 1-2 toe syndactyly
Muscles	3	Generalized hypotonia, Axial hypotonia, Contracture of the proximal interphalangeal joint of the 3rd finger
Heart and blood vessels	2	Ventricular septal defect, Atrial septal defect
Bones and joints	2	Sideways curvature of the spine (scoliosis), Contracture of the proximal interphalangeal joint of the 3rd finger
Growth and development	2	Intrauterine growth retardation, Growth delay
Digestive system	1	Gastroesophageal reflux
Eyes	1	Unilateral ptosis
Pregnancy and birth	1	Congenital diaphragmatic hernia
Lungs and breathing	1	Partial anomalous pulmonary venous return

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, 85, with or without midline brain defects.

172 publications have been identified in PubMed for developmental and epileptic encephalopathy, 85, with or without midline brain defects. Kisho has analyzed 123 by research type. Research spans Epidemiology / Natural History (24%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	29	24%
Research summaries	25	20%
Laboratory research	23	19%
Patient case studies	22	18%
Testing and diagnosis research	11	9%
Clinical study results	11	9%
New treatment approaches	2	2%

Recent Publications

Sun W (2026). [PMID: 41727492](https://pubmed.ncbi.nlm.nih.gov/41727492/). *Front Immunol*. [Epidemiology / Natural History]
Stresemann S (2026). [PMID: 42153061](https://pubmed.ncbi.nlm.nih.gov/42153061/). *Cureus*. [Case Report / Case Series]
Nishioka M (2026). [PMID: 41501055](https://pubmed.ncbi.nlm.nih.gov/41501055/). *Nat Commun*. [Case Report / Case Series]
Kirkpatrick L (2026). [PMID: 41955623](https://pubmed.ncbi.nlm.nih.gov/41955623/). *Obstet Gynecol*. [Basic Science / Preclinical]
Tan A (2026). [PMID: 41338047](https://pubmed.ncbi.nlm.nih.gov/41338047/). *J Plast Reconstr Aesthet Surg*. [Epidemiology / Natural History]
Connolly C (2026). [PMID: 41693634](https://pubmed.ncbi.nlm.nih.gov/41693634/). *Am J Med Genet A*. [Case Report / Case Series]
AlRayahi J (2026). [PMID: 41670708](https://pubmed.ncbi.nlm.nih.gov/41670708/). *Neuroradiology*. [Review / Meta-Analysis]
Minderhoud CA (2026). [PMID: 41825261](https://pubmed.ncbi.nlm.nih.gov/41825261/). *Pediatr Neurol*. [Basic Science / Preclinical]
Abbott M (2026). [PMID: 40767165](https://pubmed.ncbi.nlm.nih.gov/40767165/). *J Child Neurol*. [Diagnostic / Biomarker]
Das JM (2026). [PMID: 31082030](https://pubmed.ncbi.nlm.nih.gov/31082030/). *Unknown Journal*. [Epidemiology / Natural History]

Kisho

developmental and epileptic encephalopathy, 85, with or without midline brain defects

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

developmental and epileptic encephalopathy, 85, with or without midline brain defects

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications