Citations for
1CHRNA4, CHRNB2, ENFL1, ENFL3
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.
Manfredi I, Zani AD, Rampoldi L, Pegorini S, Bernascone I, Moretti M, Gotti C, Croci L, Consalez GG, Ferini-Strambi L, Sala M, Pattini L, Casari G.
Hum Mol Genet 18(6):1075-88. Epub 2009 Jan 18. 2009
2CHRNB2, ENFL3
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
Díaz-Otero F, Quesada M, Morales-Corraliza J, Martínez-Parra C, Gómez-Garre P, Serratosa JM.
Epilepsia 49(3):516-20. Epub 2007 Sep 26.PMID: 17900292 2008
3CHRNB2, ENFL3
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC.
Am J Hum Genet 68(1):225-31. 2001
4CHRNB2, ENFL3
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G.
Nat Genet 26(3):275-6. 2000
5ENFL3
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.
Gambardella A, Annesi G, De Fusco M, Patrignani A, Aguglia U, Annesi F, Pasqua AA, Spadafora P, Oliveri RL, Valentino P, Zappia M, Ballabio A, Casari G, Quattrone A.
Neurology 55(10):1467-71. 2000