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BFIS3
Chr 2ADsodium voltage-gated channel alpha subunit 2
Also known as: BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI
The encoded voltage-gated sodium channel alpha subunit functions in the generation and propagation of action potentials in neurons and muscle. Mutations cause benign familial infantile seizures with autosomal dominant inheritance, typically presenting in infancy as the name suggests. The seizures are generally benign with favorable outcomes, distinguishing this condition from more severe early-onset epilepsies.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/BFIS3?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
BFIS3 · 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
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External Resources
Links to major genomics databases and tools