Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.
Features include common findings: Bilateral tonic-clonic seizure and Febrile seizure (within the age range of 3 months to 6 years); and sometimes findings: Delayed speech and language development, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, and Atonic seizure and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Bilateral tonic-clonic seizure, Delayed speech and language development, Focal impaired awareness seizure |
STX1B function has not been fully characterized.
Generalized epilepsy with febrile seizures plus, type 9 is associated with mutations in the STX1B gene on chromosome 16.
Genetic testing for STX1B is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 common features.
No clinical trials have been registered for generalized epilepsy with febrile seizures plus, type 9.
4 publications have been identified in PubMed for generalized epilepsy with febrile seizures plus, type 9. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).
Kissling L (2026). [PMID: 42127217](https://pubmed.ncbi.nlm.nih.gov/42127217/). *Sci Transl Med*. [Basic Science / Preclinical]
Kim J (2025). [PMID: 40065453](https://pubmed.ncbi.nlm.nih.gov/40065453/). *J Clin Neurol*. [Basic Science / Preclinical]
Barcia G (2025). [PMID: 40347095](https://pubmed.ncbi.nlm.nih.gov/40347095/). *Epilepsia Open*. [Epidemiology / Natural History]
Henry OJ (2025). [PMID: 40183601](https://pubmed.ncbi.nlm.nih.gov/40183601/). *Epilepsia*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center