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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 312 | |
Name: | Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6 | |
Associated with: | 1 target |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖Cav3.2 | |
Role: | Thalamic oscillation. |
Drugs: | Ethosuximide |
Side effects: | Rarely: GI distress, drowsiness, leukopenia. |
Therapeutic use: | Absence epilepsy. |
References: | 1,4-5 |
Mutations: | Cav3.2 is associated with 4 mutation. Click here for details |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6
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. Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE. (2004) Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol, 55 (4): 595-6. [PMID:15048902]
3. Khosravani H, Bladen C, Parker DB, Snutch TP, McRory JE, Zamponi GW. (2005) Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. Ann Neurol, 57 (5): 745-9. [PMID:15852375]
4. 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]
5. Wallace SJ. (1986) Use of ethosuximide and valproate in the treatment of epilepsy. Neurologic clinics, 4 (3): 601-16. [PMID:3092003]