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Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6

Disease ID:312
Name:Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6
Associated with:1 target
Synonyms
Idiopathic generalized epilepsy
Database Links
Disease Ontology: DOID:1827
OMIM: 611942

Targets

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

Ligands

No ligand related data available for Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6

References

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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]