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Epilepsy, childhood absence, susceptibility to, 6; ECA6

Disease ID:307
Name:Epilepsy, childhood absence, susceptibility to, 6; ECA6
Associated with:1 target
Synonyms
Childhood absence epilepsy
Database Links
Disease Ontology: DOID:1825
OMIM: 611942
Orphanet: ORPHA64280

Targets

Cav3.2
Mutations:  Cav3.2 is associated with 12 mutation. Click here for details

Ligands

No ligand related data available for Epilepsy, childhood absence, susceptibility to, 6; ECA6

References

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1. Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z et al.. (2003) Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol, 54 (2): 239-43. [PMID:12891677]

2. Vitko I, Chen Y, Arias JM, Shen Y, Wu XR, Perez-Reyes E. (2005) Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J Neurosci, 25 (19): 4844-55. [PMID:15888660]