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epilepsies

Wednesday 14 April 2004

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

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