KCNT1 (Q5JUK3) variants and mutations

KCNT1 (also known as Q5JUK3) is a human protein-coding gene encoding a potassium channel subfamily T member 1 protein. Its sodium-activated potassium current helps shape repetitive neuronal firing and adaptation. Gain-of-function variants are a well-established cause of severe early-onset epilepsies, including epilepsy of infancy with migrating focal seizures and autosomal dominant sleep-related hypermotor epilepsy. This analysis covers 1,847 KCNT1 variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy, 14, autosomal dominant nocturnal frontal lobe epilepsy 5, and autosomal dominant nocturnal frontal lobe epilepsy. Example KCNT1 variants include R3Q, A4T, and A4G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KCNT1 variants

Examples include R3Q, A4T, A4G, A4S, A4E, A4V, K5E, K5Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.