CACNA1A-related complex neurodevelopmental disorder: genes and variants
CACNA1A-related complex neurodevelopmental disorder is linked to 1 analyzed protein (CACNA1A). 3 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 CACNA1A-related complex neurodevelopmental disorder
CACNA1A: Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Its P/Q-type calcium current is a major trigger for neurotransmitter release at central synapses and is especially important in cerebellar circuits. Pathogenic variants cause a spectrum including familial hemiplegic migraine, episodic ataxia, spinocerebellar ataxia type 6, epilepsy, and developmental disorders.
3 disease-causing and 1 uncertain variants in CACNA1A are linked to CACNA1A-related complex neurodevelopmental disorder.
Known disease-causing variants in CACNA1A-related complex neurodevelopmental disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CACNA1A G539R | 539 | II | Disease-causing (★★) |
| CACNA1A R279C | 279 | I | Disease-causing (★★) |
| CACNA1A E1263K | 1263 | III | Disease-causing (★★) |
Same protein, different disease
- Episodic ataxia type 2 is also caused by CACNA1A variants; they fall mostly in different places as the CACNA1A-related complex neurodevelopmental disorder variants (93 disease-causing).
- Spinocerebellar ataxia type 6 is also caused by CACNA1A variants; they fall mostly in different places as the CACNA1A-related complex neurodevelopmental disorder variants (28 disease-causing).
- Migraine, familial hemiplegic, 1 is also caused by CACNA1A variants; they fall mostly in different places as the CACNA1A-related complex neurodevelopmental disorder variants (26 disease-causing).
Diseases related to CACNA1A-related complex neurodevelopmental disorder
- Episodic ataxia type 2, also linked to CACNA1A
- Migraine, familial hemiplegic, 1, also linked to CACNA1A
- Spinocerebellar ataxia type 6, also linked to CACNA1A
- Epilepsy, also linked to CACNA1A
- Disorder of sexual differentiation, also linked to CACNA1A
- Focal epilepsy, also linked to CACNA1A
- Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, also linked to CACNA1A
Frequently asked questions
Which genes are linked to CACNA1A-related complex neurodevelopmental disorder?
In CATVariant, CACNA1A-related complex neurodevelopmental disorder is linked to 1 analyzed protein: CACNA1A (Voltage-dependent P/Q-type calcium channel subunit alpha-1A).
How many genetic variants are linked to CACNA1A-related complex neurodevelopmental disorder?
4 variants: 3 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 CACNA1A-related complex neurodevelopmental disorder 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