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Features include always present findings: Poor head control, Floppy infant, Astigmatism, and Long philtrum and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Myoclonic seizure, Cerebral visual impairment, Enlarged brain ventricles (ventriculomegaly) |
PIGQ function has not been fully characterized.
Developmental and epileptic encephalopathy, 77 is caused by mutations in the PIGQ gene on chromosome 16.
Genetic testing for PIGQ is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for developmental and epileptic encephalopathy, 77 has been reported in the published literature.
Phenotype severity distribution: 36 always present features.
No clinical trials have been registered for developmental and epileptic encephalopathy, 77.
51 publications have been identified in PubMed for developmental and epileptic encephalopathy, 77. Research spans Epidemiology / Natural History (51%), Review / Meta-Analysis (18%), and Diagnostic / Biomarker (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 26 | 51% |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:09 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
3 |
Vertical nystagmus, Cerebral visual impairment, Ptosis |
Head and neck | 2 | Coarse facial features, Thin upper lip vermilion |
Digestive system | 2 | Abdominal wall muscle weakness, Feeding difficulties in infancy |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
Muscles | 1 | Abdominal wall muscle weakness |
Skin | 1 | Soft skin |
Bones and joints | 1 | Sideways curvature of the spine (scoliosis) |
Kidneys and urinary system | 1 | Renal cortical cysts |
Research summaries |
9 |
18% |
Testing and diagnosis research | 5 | 10% |
Laboratory research | 5 | 10% |
Clinical study results | 3 | 6% |
Patient case studies | 2 | 4% |
Other research | 1 | 2% |
Marchionni E (2026). [PMID: 41615502](https://pubmed.ncbi.nlm.nih.gov/41615502/). *Neurogenetics*. [Case Report / Case Series]
Enyama D (2026). [PMID: 41837584](https://pubmed.ncbi.nlm.nih.gov/41837584/). *J Paediatr Child Health*. [Clinical Trial Publication]
Ma A (2026). [PMID: 42033987](https://pubmed.ncbi.nlm.nih.gov/42033987/). *Pediatr Neurol*. [Review / Meta-Analysis]
Liu P (2026). [PMID: 41934115](https://pubmed.ncbi.nlm.nih.gov/41934115/). *CNS Neurosci Ther*. [Epidemiology / Natural History]
Jonsson M (2026). [PMID: 40617904](https://pubmed.ncbi.nlm.nih.gov/40617904/). *Pediatr Res*. [Epidemiology / Natural History]
Sun W (2026). [PMID: 41727492](https://pubmed.ncbi.nlm.nih.gov/41727492/). *Front Immunol*. [Epidemiology / Natural History]
Samanta D (2026). [PMID: 41297143](https://pubmed.ncbi.nlm.nih.gov/41297143/). *Seizure*. [Review / Meta-Analysis]
De Dominicis A (2026). [PMID: 41818656](https://pubmed.ncbi.nlm.nih.gov/41818656/). *Neurology*. [Epidemiology / Natural History]
de Oliveira HM (2026). [PMID: 42202442](https://pubmed.ncbi.nlm.nih.gov/42202442/). *Seizure*. [Review / Meta-Analysis]
Duan H (2026). [PMID: 42244324](https://pubmed.ncbi.nlm.nih.gov/42244324/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Review / Meta-Analysis]