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developmental and epileptic encephalopathy, 88 (DEE88) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 88

MONDO:0030072

Also known as:DEE88EIEE88EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88

Overview

GeneticsAutosomal recessive · MDH1 (chr 2)

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: Progressive microcephaly, Hypertonia, Axial hypotonia, and Hypsarrhythmia and 12 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Global developmental delay, Depressed nasal bridge
Head and neck

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MDH1 encodes malate dehydrogenase 1 (334 aa). Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH. Highest expression in Heart Left Ventricle (440.0 TPM) and Brain Frontal Cortex BA9 (377.3 TPM).

Developmental and epileptic encephalopathy, 88 is associated with mutations in the MDH1 gene on chromosome 2.

The MDH1 protein participates in GOT2 transaminates OA and L-Glu and Malate-aspartate shuttle pathways.

MDH1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for MDH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 88 has been reported in the published literature.

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, 88.

42 publications have been identified in PubMed for developmental and epileptic encephalopathy, 88. Research spans Epidemiology / Natural History (26%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	11	26%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618959

GARD

Genetic and Rare Diseases Info Center

GARD:16398

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

developmental and epileptic encephalopathy, 88

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 88

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications