Generalized epilepsy - paroxysmal dyskinesia: genes and variants
Explore variant evidence for Generalized epilepsy - paroxysmal dyskinesia across 2 analyzed proteins (KCNMA1, KCNA1). Linked ClinVar records include 10 pathogenic or likely pathogenic variants, 333 variants of uncertain significance and 19 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Generalized epilepsy - paroxysmal dyskinesia
KCNMA1: Calcium-activated potassium channel subunit alpha-1
Its large-conductance potassium current couples membrane voltage and intracellular calcium to rapid repolarization in neurons, smooth muscle, and other excitable cells. Gain- and loss-of-function variants can cause paroxysmal dyskinesia, epilepsy, developmental impairment, and movement disorders.
9 ClinVar pathogenic / likely pathogenic and 352 uncertain variants in KCNMA1 have source records linked to Generalized epilepsy - paroxysmal dyskinesia. Association strength is not clinical gene validity.
KCNA1: Potassium voltage-gated channel subfamily A member 1
Its potassium current limits neuronal excitability and shapes action-potential repolarization, especially in axons and presynaptic terminals. Pathogenic variants classically cause episodic ataxia type 1 and can also produce epilepsy, myokymia, and related neurologic phenotypes.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in KCNA1 have source records linked to Generalized epilepsy - paroxysmal dyskinesia. Association strength is not clinical gene validity.
Where Generalized epilepsy - paroxysmal dyskinesia variants cluster
- KCNMA1 RCK N-terminal 2 (positions 839–983): 4 of 9 ClinVar pathogenic / likely pathogenic variants, 3.8× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Generalized epilepsy - paroxysmal dyskinesia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KCNMA1 N1053S | 1053 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| KCNMA1 N998S | 998 | Cytoplasmic | Pathogenic / likely pathogenic (★★) |
| KCNMA1 L192I | 192 | Segment S1 | Pathogenic / likely pathogenic (★) |
| KCNMA1 T352A | 352 | P region | Pathogenic / likely pathogenic (★) |
| KCNMA1 T603A | 603 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| KCNMA1 N949S | 949 | RCK N-terminal 2 | Pathogenic / likely pathogenic (★) |
| KCNA1 G396R | 396 | Segment S6 | Pathogenic / likely pathogenic (★) |
| KCNMA1 N932S | 932 | RCK N-terminal 2 | Pathogenic / likely pathogenic (★) |
| KCNMA1 E884K | 884 | RCK N-terminal 2 | Pathogenic / likely pathogenic |
| KCNMA1 E942K | 942 | RCK N-terminal 2 | Pathogenic / likely pathogenic |
Which prediction tools work for Generalized epilepsy - paroxysmal dyskinesia
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- PolyPhen-2: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 69 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Liang-Wang syndrome also has ClinVar records linked to KCNMA1 variants; they fall mostly in different places as the Generalized epilepsy - paroxysmal dyskinesia variants (3 pathogenic / likely pathogenic).
- Episodic ataxia type 2 also has ClinVar records linked to KCNA1 variants; they fall mostly in different places as the Generalized epilepsy - paroxysmal dyskinesia variants (27 pathogenic / likely pathogenic).
Diseases related to Generalized epilepsy - paroxysmal dyskinesia
- Episodic ataxia type 2, also linked to KCNA1
- Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to KCNMA1
- Congenital myasthenic syndrome 17, also linked to KCNA1
- Idiopathic generalized epilepsy, also linked to KCNMA1
- Episodic kinesigenic dyskinesia, also linked to KCNA1
- Liang-Wang syndrome, also linked to KCNMA1
Frequently asked questions
Which genes have records linked to Generalized epilepsy - paroxysmal dyskinesia?
This view contains 2 analyzed proteins: KCNMA1, KCNA1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 10 pathogenic or likely pathogenic variants, 333 variants of uncertain significance and 19 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 375 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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