Liang-Wang syndrome: genes and variants
Liang-Wang syndrome is linked to 1 analyzed protein (KCNMA1). 3 DNA variants are known to cause it; 13 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 Liang-Wang syndrome
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.
3 disease-causing and 13 uncertain variants in KCNMA1 are linked to Liang-Wang syndrome.
Known disease-causing variants in Liang-Wang syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KCNMA1 G375R | 375 | Segment S6 | Disease-causing (★★) |
| KCNMA1 P863L | 863 | RCK N-terminal 2 | Disease-causing (★★) |
| KCNMA1 L568P | 568 | Segment S7 | Disease-causing (★) |
Same protein, different disease
- Generalized epilepsy-paroxysmal dyskinesia syndrome is also caused by KCNMA1 variants; they fall mostly in different places as the Liang-Wang syndrome variants (9 disease-causing).
Diseases related to Liang-Wang syndrome
- Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to KCNMA1
- Idiopathic generalized epilepsy, also linked to KCNMA1
- Generalized epilepsy-paroxysmal dyskinesia syndrome, also linked to KCNMA1
- Cerebellar atrophy, developmental delay, and seizures, also linked to KCNMA1
Frequently asked questions
Which genes are linked to Liang-Wang syndrome?
In CATVariant, Liang-Wang syndrome is linked to 1 analyzed protein: KCNMA1 (Calcium-activated potassium channel subunit alpha-1).
How many genetic variants are linked to Liang-Wang syndrome?
19 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Liang-Wang syndrome 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center