epilepsies
Image Gallery
Types (exemples)
idiopathic generalized epilepsy
- adolescent-onset idiopathic generalized epilepsy
progressive myoclonic epilepsies
Epilepsy genes
Ion channels
sodium channels
- SCN1A
- SCN1B
- SCN2A
chloride channels
- CACNB4
- CACNA1A
- CACNH1
GABA-A receptor subunits
nicotinic acetylcholine receptors
- CHRNB2
- CHRNA4
- CHRNA2
References
Armstrong DD. Epilepsy-Induced Microarchitectural Changes in the Brain. Pediatr Dev Pathol. 2005 Dec 6; PMID: 16333693
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:2491-2500. PMID: 16278970
Steinlein OK. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci. 2004 May;5(5):400-8. PMID: 15100722
Guerrini R, Casari G, Marini C. The genetic and molecular basis of epilepsy. Trends Mol Med. 2003 Jul;9(7):300-6. PMID: 12900217