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