Autosomal dominant nocturnal frontal lobe epilepsy: genes and variants
Autosomal dominant nocturnal frontal lobe epilepsy is linked to 3 analyzed proteins (CHRNA4, KCNT1 and DEPDC5). 1 DNA variants are known to cause it; 55 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Autosomal dominant nocturnal frontal lobe epilepsy 1; autosomal dominant nocturnal frontal lobe epilepsy 5
Genes linked to Autosomal dominant nocturnal frontal lobe epilepsy
CHRNA4: Neuronal acetylcholine receptor subunit alpha-4
It contributes to neuronal nicotinic acetylcholine responses that regulate excitability and neurotransmitter release. Dominant gain-of-function variants classically cause sleep-related hypermotor epilepsy, formerly termed autosomal dominant nocturnal frontal-lobe epilepsy.
1 disease-causing and 41 uncertain variants in CHRNA4 are linked to Autosomal dominant nocturnal frontal lobe epilepsy.
KCNT1: Potassium channel subfamily T member 1
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.
0 disease-causing and 14 uncertain variants in KCNT1 are linked to Autosomal dominant nocturnal frontal lobe epilepsy.
DEPDC5: GATOR1 complex protein DEPDC5
It is part of the GATOR1 complex, which restrains mTORC1 activity when amino acids are limited. Loss-of-function variants cause focal epilepsy with variable penetrance and can contribute to focal cortical dysplasia through somatic second-hit events.
0 disease-causing and 0 uncertain variants in DEPDC5 are linked to Autosomal dominant nocturnal frontal lobe epilepsy.
Known disease-causing variants in Autosomal dominant nocturnal frontal lobe epilepsy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CHRNA4 S280F | 280 | Transmembrane | Disease-causing (★★) |
Diseases related to Autosomal dominant nocturnal frontal lobe epilepsy
- Epilepsy, also linked to DEPDC5
- Familial sleep-related hypermotor epilepsy, also linked to CHRNA4
- Familial focal epilepsy with variable foci, also linked to DEPDC5
- Epilepsy, familial focal, with variable foci 1, also linked to DEPDC5
Frequently asked questions
Which genes are linked to Autosomal dominant nocturnal frontal lobe epilepsy?
In CATVariant, Autosomal dominant nocturnal frontal lobe epilepsy is linked to 3 analyzed proteins: CHRNA4 (Neuronal acetylcholine receptor subunit alpha-4), KCNT1 (Potassium channel subfamily T member 1) and DEPDC5 (GATOR1 complex protein DEPDC5).
How many genetic variants are linked to Autosomal dominant nocturnal frontal lobe epilepsy?
186 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 55 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant nocturnal frontal lobe epilepsy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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