Autosomal dominant epilepsy: genes and variants
Autosomal dominant epilepsy is linked to 2 analyzed proteins (SCN1A and KCNQ2). 5 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Autosomal dominant epilepsy
SCN1A: Sodium channel protein type 1 subunit alpha
Its sodium current is especially important for reliable firing of inhibitory interneurons and therefore for balancing excitation across neural networks. Loss-of-function variants are the major cause of Dravet syndrome, while other variants cause GEFS+ or familial hemiplegic migraine.
4 disease-causing and 1 uncertain variants in SCN1A are linked to Autosomal dominant epilepsy.
KCNQ2: Potassium voltage-gated channel subfamily KQT member 2
Together with KCNQ3, its slowly activating potassium current provides much of the neuronal M-current that suppresses repetitive firing. Pathogenic variants cause a spectrum from self-limited familial neonatal epilepsy to severe developmental and epileptic encephalopathy.
1 disease-causing and 0 uncertain variants in KCNQ2 are linked to Autosomal dominant epilepsy.
Known disease-causing variants in Autosomal dominant epilepsy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN1A N1779S | 1779 | IV | Disease-causing (★★) |
| SCN1A R1648H | 1648 | IV | Disease-causing (★★) |
| SCN1A R859H | 859 | II | Disease-causing (★★) |
| SCN1A R1596C | 1596 | IV | Disease-causing (★★) |
| KCNQ2 L388P | 388 | Mediates interaction with calmodulin | Disease-causing |
Same protein, different disease
- Early-infantile DEE is also caused by SCN1A variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (422 disease-causing).
- Severe myoclonic epilepsy in infancy is also caused by SCN1A variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (213 disease-causing).
- Generalized epilepsy with febrile seizures plus is also caused by SCN1A variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (76 disease-causing).
- Migraine, familial hemiplegic, 1 is also caused by SCN1A variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (20 disease-causing).
- Epilepsy is also caused by SCN1A variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (4 disease-causing).
- Early-infantile DEE is also caused by KCNQ2 variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (199 disease-causing).
- Seizures, benign familial neonatal, 1 is also caused by KCNQ2 variants; they fall mostly in different places as the Autosomal dominant epilepsy variants (57 disease-causing).
Diseases related to Autosomal dominant epilepsy
- Early-infantile DEE, also linked to KCNQ2 and SCN1A
- Epilepsy, also linked to KCNQ2 and SCN1A
- Genetic developmental and epileptic encephalopathy, also linked to KCNQ2 and SCN1A
- Severe myoclonic epilepsy in infancy, also linked to SCN1A
- Amyotrophic lateral sclerosis, also linked to SCN1A
- Generalized epilepsy with febrile seizures plus, also linked to SCN1A
- Cardiac arrhythmia, also linked to SCN1A
- Migraine, familial hemiplegic, 1, also linked to SCN1A
- Seizures, benign familial neonatal, 1, also linked to KCNQ2
- Febrile seizures, familial, 3a, also linked to SCN1A
- West syndrome, also linked to KCNQ2
- Paediatric disorders, also linked to KCNQ2
Frequently asked questions
Which genes are linked to Autosomal dominant epilepsy?
In CATVariant, Autosomal dominant epilepsy is linked to 2 analyzed proteins: SCN1A (Sodium channel protein type 1 subunit alpha) and KCNQ2 (Potassium voltage-gated channel subfamily KQT member 2).
How many genetic variants are linked to Autosomal dominant epilepsy?
6 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant 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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