| 1 | CHRNA4, ENFL1
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| Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.
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| Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S.
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| J Hum Genet 56(8):609-12. doi: 10.1038/jhg.2011.69. Epub 2011 Jul 14.
2011
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| 2 | CHRNA4, ENFL1
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| Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline.
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| Reinvang I, Lundervold AJ, Wehling E, Rootwelt H, Espeseth T.
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| J Int Neuropsychol Soc 16(3):424-32. Epub 2010 Mar 24.
2010
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| 3 | 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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| 4 | CHRNA4, ENFL1
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| Genetic disorders caused by mutated acetylcholine receptors.
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| Steinlein OK.
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| Life Sci 80(24-25):2186-90. Epub 2007 Mar 19.
2007
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| 5 | CHRNA4, ENFL1
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| Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.
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| Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J.
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| Proc Natl Acad Sci U S A 103(50):19152-7. Epub 2006 Dec 4. 2006
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| 6 | ENFL1, CHRNA4, BRD2, ME2, LGI1, EPT, EFHC1, EJM1, BFNIS, SCN2A
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| Sacred disease secrets revealed: the genetics of human epilepsy.
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| Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA.
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| Hum Mol Genet 14(17):2491-500. Epub 2005 Jul 27. 2005
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| 7 | ENFL1, CHRNA4
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| Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.
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| Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E.
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| Epilepsia 41(5):529-35. 2000
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| 8 | CHRNA4, ENFL1
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| Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.
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| Saenz A, Galan J, Caloustian C, Lorenzo F, Marquez C, Rodriguez N, Jimenez MD, Poza JJ, Cobo AM, Grid D, Prud'homme JF, Lopez de Munain A.
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| Arch Neurol 56(8):1004-9 1999
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| 9 | CHRNA4, ENFL1
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| An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.
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| Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D.
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| Hum Mol Genet 6(6):943-7. 1997
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| 10 | CHRNA4, ENFL1
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| Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors.
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| Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J.
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| J Neurosci 17(23):9035-47. 1997
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| 11 | ENFL1, CHRNA4
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| Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation.
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| Forman SA, et al.
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| Nat Genet 13 : 396-397. 1996
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| 12 | ENFL1, CHRNA4
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| A missense mutation in the neuronal nicotinic acetylcholine receptor alpha4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
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| Steinlein OK, et al.
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| Nat Genet 11 : 201-203. 1995
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| 13 | ENFL1
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| Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2.
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| Phillips HA, et al.
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| Nat Genet 10 : 117-118. 1995
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