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developmental and epileptic encephalopathy 118 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 118

MONDO:0979238

Overview

GeneticsAutosomal dominant

ResearchLimited published research (4 articles)

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: Bilateral tonic-clonic seizure, Delayed CNS myelination, Recurrent lower respiratory tract infections, and Focal impaired awareness seizure and others; and common findings: Low red blood cell count (anemia) and Hepatosplenomegaly. 62 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	24	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Gait ataxia

Prognosis

Phenotype severity distribution: 59 always present features, 2 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 118.

8 publications have been identified in PubMed for developmental and epileptic encephalopathy 118. Kisho has analyzed 4 by research type. Research spans Epidemiology / Natural History (75%) and Basic Science / Preclinical (25%).

Recent Publications

Kart PO (2026). [PMID: 41875756](https://pubmed.ncbi.nlm.nih.gov/41875756/). *Epilepsy Behav*. [Epidemiology / Natural History]
Mei D (2025). [PMID: 40826482](https://pubmed.ncbi.nlm.nih.gov/40826482/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Alves M (2024). [PMID: 38777288](https://pubmed.ncbi.nlm.nih.gov/38777288/). *Brain Behav Immun*. [Basic Science / Preclinical]
Falsaperla R (2024). [PMID: 38735085](https://pubmed.ncbi.nlm.nih.gov/38735085/). *Seizure*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621250

Questions for Your Care Team

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developmental and epileptic encephalopathy 118

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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