epilepsy, childhood absence, susceptibility to, 6
MONDO:0012763Mondo
Findings
No curated finding names epilepsy, childhood absence, susceptibility to, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.
Definition from the Mondo Disease Ontology (MONDO:0012763), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNA1HHGNC:1395
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2015
Where it sits
- A kind of
Other names
3 names
Resolves to: epilepsy, childhood absence, susceptibility to, 6
- Also called
- ECA6epilepsy, childhood absence, susceptibility to, type 6susceptibility to childhood absence epilepsy 6