Absence epilepsy

Disease ID:19
Name:Absence epilepsy
Associated with:2 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
early onset absence epilepsy
Database Links
Disease Ontology: DOID:0050708

Targets

Cav3.1
Role:  Thalamic oscillation.
Drugs:  Ethosuximide
Side effects:  Rarely: GI distres, drowsiness, leukopenia.
Therapeutic use:  Absence epilepsy.
Comments:  The mutation frequency has not been determined
References:  1,3-4
Cav3.3
Role:  Thalamic oscillation.
Drugs:  Ethosuximide
Side effects:  Rarely: GI distress, drowsiness, leukopenia.
Therapeutic use:  Absence epilepsy.
Comments:  Mutation frequency not determined
References:  2-4

Ligands

No ligand related data available for Absence epilepsy

References

Show »

1. Coulter DA, Huguenard JR, Prince DA. (1989) Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons. Ann. Neurol., 25 (6): 582-93. [PMID:2545161]

2. Gomora JC, Daud AN, Weiergräber M, Perez-Reyes E. (2001) Block of cloned human T-type calcium channels by succinimide antiepileptic drugs. Mol. Pharmacol., 60 (5): 1121-32. [PMID:11641441]

3. Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D et al.. (2011) Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell, 145 (7): 1036-48. [PMID:21703448]

4. Wallace SJ. (1986) Use of ethosuximide and valproate in the treatment of epilepsy. Neurologic clinics, 4 (3): 601-16. [PMID:3092003]