Cerebellar atrophy, developmental delay, and seizures: genes and variants
Cerebellar atrophy, developmental delay, and seizures is linked to 2 analyzed proteins (KCNMA1 and CACNA2D2). 1 DNA variants are known to cause it; 8 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 Cerebellar atrophy, developmental delay, and seizures
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.
1 disease-causing and 8 uncertain variants in KCNMA1 are linked to Cerebellar atrophy, developmental delay, and seizures.
CACNA2D2: Voltage-dependent calcium channel subunit alpha-2/delta-2
It promotes trafficking and functional expression of voltage-gated calcium-channel complexes and is particularly important in cerebellar neurons. Biallelic loss-of-function variants can cause developmental epileptic encephalopathy with cerebellar atrophy and ataxia.
0 disease-causing and 0 uncertain variants in CACNA2D2 are linked to Cerebellar atrophy, developmental delay, and seizures.
Known disease-causing variants in Cerebellar atrophy, developmental delay, and seizures
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KCNMA1 G567S | 567 | 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 Cerebellar atrophy, developmental delay, and seizures variants (9 disease-causing).
- Liang-Wang syndrome is also caused by KCNMA1 variants; they fall mostly in different places as the Cerebellar atrophy, developmental delay, and seizures variants (3 disease-causing).
Diseases related to Cerebellar atrophy, developmental delay, and seizures
- Early-infantile DEE, also linked to CACNA2D2
- Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to KCNMA1
- Idiopathic generalized epilepsy, also linked to KCNMA1
- Epilepsy, also linked to CACNA2D2
- Generalized epilepsy-paroxysmal dyskinesia syndrome, also linked to KCNMA1
- Genetic developmental and epileptic encephalopathy, also linked to CACNA2D2
- Liang-Wang syndrome, also linked to KCNMA1
- Cerebellar atrophy with seizures and variable developmental delay, also linked to CACNA2D2
Frequently asked questions
Which genes are linked to Cerebellar atrophy, developmental delay, and seizures?
In CATVariant, Cerebellar atrophy, developmental delay, and seizures is linked to 2 analyzed proteins: KCNMA1 (Calcium-activated potassium channel subunit alpha-1) and CACNA2D2 (Voltage-dependent calcium channel subunit alpha-2/delta-2).
How many genetic variants are linked to Cerebellar atrophy, developmental delay, and seizures?
13 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cerebellar atrophy, developmental delay, and seizures 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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