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Features include always present findings: Bilateral tonic-clonic seizure, Generalized myoclonic seizure, and Generalized hypotonia. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 10 | Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure |
SCN1B function has not been fully characterized.
Developmental and epileptic encephalopathy, 52 is associated with mutations in the SCN1B gene on chromosome 19.
Genetic testing for SCN1B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for developmental and epileptic encephalopathy, 52 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for developmental and epileptic encephalopathy, 52.
90 publications have been identified in PubMed for developmental and epileptic encephalopathy, 52. Research spans Epidemiology / Natural History (40%), Clinical Trial Publication (21%), and Review / Meta-Analysis (12%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 36 | 40% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Muscles
1 |
Generalized hypotonia |
Arms and legs | 1 | Limb ataxia |
Clinical study results |
19 |
21% |
Research summaries | 11 | 12% |
Patient case studies | 10 | 11% |
Testing and diagnosis research | 7 | 8% |
Laboratory research | 6 | 7% |
New treatment approaches | 1 | 1% |
Maclaine G (2026). [PMID: 41527503](https://pubmed.ncbi.nlm.nih.gov/41527503/). *Developmental medicine and child neurology*. [Review / Meta-Analysis]
Kalampokini S (2026). [PMID: 41793234](https://pubmed.ncbi.nlm.nih.gov/41793234/). *Epileptic disorders : international epilepsy journal with videotape*. [Review / Meta-Analysis]
Caputo D (2026). [PMID: 41133379](https://pubmed.ncbi.nlm.nih.gov/41133379/). *Epilepsia*. [Epidemiology / Natural History]
Ludwig NN (2026). [PMID: 41533235](https://pubmed.ncbi.nlm.nih.gov/41533235/). *Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation*. [Clinical Trial Publication]
Salcedo-Perez-Juana M (2026). [PMID: 41405416](https://pubmed.ncbi.nlm.nih.gov/41405416/). *Child: care, health and development*. [Epidemiology / Natural History]
Stankewitz D (2026). [PMID: 41950825](https://pubmed.ncbi.nlm.nih.gov/41950825/). *Seizure*. [Clinical Trial Publication]
Benítez-Provedo C (2026). [PMID: 42184160](https://pubmed.ncbi.nlm.nih.gov/42184160/). *Epilepsia*. [Case Report / Case Series]
Ramantani G (2026). [PMID: 42227967](https://pubmed.ncbi.nlm.nih.gov/42227967/). *Epilepsia*. [Epidemiology / Natural History]
Taximi S (2026). [PMID: 42213138](https://pubmed.ncbi.nlm.nih.gov/42213138/). *Eur J Pediatr*. [Epidemiology / Natural History]
Reischl-Hajiabadi AT (2026). [PMID: 41728752](https://pubmed.ncbi.nlm.nih.gov/41728752/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]