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Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.
Features include always present findings: Bilateral tonic-clonic seizure; and common findings: Normal interictal EEG. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset |
Lungs and breathing | 1 | Apnea |
SCN2A function has not been fully characterized.
Seizures, benign familial infantile, 3 is associated with mutations in the SCN2A gene on chromosome 2.
Genetic testing for SCN2A is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for seizures, benign familial infantile, 3 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for seizures, benign familial infantile, 3.
21 publications have been identified in PubMed for seizures, benign familial infantile, 3. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (19%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 38% |
Laboratory research | 6 | 29% |
Disease patterns and progression | 4 | 19% |
Research summaries | 2 | 10% |
Testing and diagnosis research | 1 | 5% |
Wang Y (2026). [PMID: 41051877](https://pubmed.ncbi.nlm.nih.gov/41051877/). *Epilepsia*. [Case Report / Case Series]
Nou-Fontanet L (2026). [PMID: 41552915](https://pubmed.ncbi.nlm.nih.gov/41552915/). *Movement disorders : official journal of the Movement Disorder Society*. [Basic Science / Preclinical]
Corradi A (2026). [PMID: 41630925](https://pubmed.ncbi.nlm.nih.gov/41630925/). *Neurology. Genetics*. [Basic Science / Preclinical]
Balasundaram P (2026). [PMID: 34033328](https://pubmed.ncbi.nlm.nih.gov/34033328/). *Unknown Journal*. [Review / Meta-Analysis]
Li Y (2026). [PMID: 41988220](https://pubmed.ncbi.nlm.nih.gov/41988220/). *Neurol Genet*. [Case Report / Case Series]
M YK (2026). [PMID: 42150140](https://pubmed.ncbi.nlm.nih.gov/42150140/). *Neurology*. [Case Report / Case Series]
Tan M (2026). [PMID: 41642117](https://pubmed.ncbi.nlm.nih.gov/41642117/). *Epilepsia*. [Basic Science / Preclinical]
Hautala S (2025). [PMID: 40158917](https://pubmed.ncbi.nlm.nih.gov/40158917/). *Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology*. [Epidemiology / Natural History]
Barcia G (2025). [PMID: 40347095](https://pubmed.ncbi.nlm.nih.gov/40347095/). *Epilepsia open*. [Epidemiology / Natural History]
Bakoš M (2025). [PMID: 39857925](https://pubmed.ncbi.nlm.nih.gov/39857925/). *Children (Basel, Switzerland)*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center