epilepsies
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[ (||image_reduire{0,60}|inserer_attribut{alt,Etiologies of epilepsy}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Genes involved in monogenic epilepsy}) ]
Types (exemples)
idiopathic generalized epilepsy
- adolescent-onset idiopathic generalized epilepsy
progressive myoclonic epilepsies
Epilepsy genes
Ion channels
potassium channels
- KCNQ2
- KCNQ3
- KCNA1
- KCNMA1
sodium channels
- SCN1A
- SCN1B
- SCN2A
chloride channels
- CLCN2
calcium channels
- CACNB4
- CACNA1A
- CACNH1
GABA-A receptor subunits
- GABRA1
- GABRG2
- GABRD
nicotinic acetylcholine receptors
- CHRNB2
- CHRNA4
- CHRNA2
Non-ion channels
EFHC1
LGI1
BRD2
MEA2
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#
Chang BS, Lowenstein DH. Epilepsy. N Engl J Med. 2003 Sep 25;349(13):1257-66. PMID: #14507951#