GEFSP7
Chr 2ADGeneralized epilepsy with febrile seizures plus, type 7
Also known as: FEB3B
The GEFSP7 gene encodes a protein involved in neuronal excitability regulation. Mutations cause generalized epilepsy with febrile seizures plus, type 7, characterized by febrile seizures in early childhood that may progress to afebrile generalized seizures. This condition follows an autosomal dominant inheritance pattern.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GEFSP7?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GEFSP7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools