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A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.
Features include very common findings: Febrile seizure (within the age range of 3 months to 6 years); and common findings: Bilateral tonic-clonic seizure. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) seizure |
GABRG2 encodes gamma-aminobutyric acid type A receptor subunit gamma2 (475 aa). Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. Highest expression in Brain Cerebellar Hemisphere (20.3 TPM) and Brain Frontal Cortex BA9 (19.4 TPM).
Febrile seizures, familial, 8 is associated with mutations in the GABRG2 gene on chromosome 5.
GABRG2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.4.
Genetic testing for GABRG2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for febrile seizures, familial, 8 has been reported in the published literature.
Phenotype severity distribution: 1 very common feature, 1 common feature.
No clinical trials have been registered for febrile seizures, familial, 8.
29 publications have been identified in PubMed for febrile seizures, familial, 8. Research spans Epidemiology / Natural History (52%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 15 | 52% |
Laboratory research | 6 | 21% |
Research summaries | 3 | 10% |
Patient case studies | 3 | 10% |
Testing and diagnosis research | 2 | 7% |
Sadık ZZT (2026). [PMID: 41804790](https://pubmed.ncbi.nlm.nih.gov/41804790/). *Journal of paediatrics and child health*. [Epidemiology / Natural History]
Ong JJ (2026). [PMID: 41617503](https://pubmed.ncbi.nlm.nih.gov/41617503/). *The Medical journal of Malaysia*. [Epidemiology / Natural History]
Yavuz M (2026). [PMID: 41570404](https://pubmed.ncbi.nlm.nih.gov/41570404/). *Brain & development*. [Case Report / Case Series]
Song HY (2026). [PMID: 42270290](https://pubmed.ncbi.nlm.nih.gov/42270290/). *BMJ Paediatr Open*. [Epidemiology / Natural History]
Klakk J (2026). [PMID: 41564577](https://pubmed.ncbi.nlm.nih.gov/41564577/). *Epilepsy & behavior : E&B*. [Epidemiology / Natural History]
Mungklang N (2026). [PMID: 42172817](https://pubmed.ncbi.nlm.nih.gov/42172817/). *Brain Dev*. [Epidemiology / Natural History]
Bui AH (2026). [PMID: 41840878](https://pubmed.ncbi.nlm.nih.gov/41840878/). *Pediatrics international : official journal of the Japan Pediatric Society*. [Epidemiology / Natural History]
Mohamed Z (2026). [PMID: 42005082](https://pubmed.ncbi.nlm.nih.gov/42005082/). *Avicenna J Med*. [Epidemiology / Natural History]
Bui AH (2026). [PMID: 41409019](https://pubmed.ncbi.nlm.nih.gov/41409019/). *Epilepsia open*. [Epidemiology / Natural History]
Güleç A (2026). [PMID: 42049252](https://pubmed.ncbi.nlm.nih.gov/42049252/). *Int J Dev Neurosci*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC
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