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developmental and epileptic encephalopathy, 12 (DEE12) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Axial hypotonia, Epileptic spasm, Bilateral tonic-clonic seizure, and Hypsarrhythmia and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Epileptic spasm, Bilateral tonic-clonic seizure, Loss of previously acquired skills (developmental regression)
Muscles	1	Axial hypotonia

Age of onset: childhood.

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, 12.

220 publications have been identified in PubMed for developmental and epileptic encephalopathy, 12. Research spans Epidemiology / Natural History (25%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Disease patterns and progression	56	25%
Laboratory research	45	20%
Research summaries	42	19%
Patient case studies	34	15%
Clinical study results	22	10%
Testing and diagnosis research	9	4%
New treatment approaches	8	4%
Other research	4	2%

Recent Publications

Corradi A (2026). [PMID: 41630925](https://pubmed.ncbi.nlm.nih.gov/41630925/). *Neurol Genet*. [Basic Science / Preclinical]
GBD 2023 Mental Disorder Collaborators (2026). [PMID: 42167272](https://pubmed.ncbi.nlm.nih.gov/42167272/). *Lancet*. [Review / Meta-Analysis]
Riccardi F (2026). [PMID: 42190144](https://pubmed.ncbi.nlm.nih.gov/42190144/). *Neurology*. [Diagnostic / Biomarker]
Cicala G (2026). [PMID: 41610868](https://pubmed.ncbi.nlm.nih.gov/41610868/). *Neuropediatrics*. [Diagnostic / Biomarker]
de Oliveira HM (2026). [PMID: 42185726](https://pubmed.ncbi.nlm.nih.gov/42185726/). *CNS Drugs*. [Review / Meta-Analysis]
Balaram N (2026). [PMID: 42247783](https://pubmed.ncbi.nlm.nih.gov/42247783/). *Epilepsy Behav*. [Epidemiology / Natural History]
Dlugos DJ (2026). [PMID: 41133912](https://pubmed.ncbi.nlm.nih.gov/41133912/). *Epilepsia*. [Clinical Trial Publication]
Sahu A (2026). [PMID: 42008890](https://pubmed.ncbi.nlm.nih.gov/42008890/). *Epilepsy Res*. [Epidemiology / Natural History]
Galassi Deforie V (2026). [PMID: 41860019](https://pubmed.ncbi.nlm.nih.gov/41860019/). *Genet Med*. [Basic Science / Preclinical]
Quiroz V (2026). [PMID: 40811633](https://pubmed.ncbi.nlm.nih.gov/40811633/). *Brain*. [Basic Science / Preclinical]

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developmental and epileptic encephalopathy, 12

Overview

Clinical Presentation

Medical References

External Resources

OMIM

GARD

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, 12

Overview

Clinical Presentation

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications