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, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X. (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]