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Items: 1 to 20 of 121

1.

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S.

J Hum Genet. 2011 Aug;56(8):609-12. doi: 10.1038/jhg.2011.69. Epub 2011 Jul 14.

PMID:
21753767
2.

Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.

Ito M, Kobayashi K, Fujii T, Okuno T, Hirose S, Iwata H, Mitsudome A, Kaneko S.

Epilepsia. 2000 Jan;41(1):52-8. Review.

3.

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

Hirose S, Iwata H, Akiyoshi H, Kobayashi K, Ito M, Wada K, Kaneko S, Mitsudome A.

Neurology. 1999 Nov 10;53(8):1749-53.

PMID:
10563623
4.

Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.

Rozycka A, Skorupska E, Kostyrko A, Trzeciak WH.

Epilepsia. 2003 Aug;44(8):1113-7.

5.

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.

Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D.

Hum Mol Genet. 1997 Jun;6(6):943-7.

PMID:
9175743
6.

The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy.

Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, Lu Q, Lv R, Wu L, Ma X.

Epilepsy Res. 2011 Jun;95(1-2):94-9. doi: 10.1016/j.eplepsyres.2011.03.002. Epub 2011 Apr 16.

PMID:
21497487
7.

Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.

Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E.

Epilepsia. 2000 May;41(5):529-35.

8.

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.

Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalprà L, Malcovati M, Tenchini ML, Smirne S, Ferini-Strambi L.

Brain. 1998 Feb;121 ( Pt 2):205-23.

PMID:
9549500
9.

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. 2008 Mar;49(3):516-20. Epub 2007 Sep 26.

10.

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.

McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM.

Epilepsia. 2003 Apr;44(4):613-7.

11.

[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy].

Chen ZH, Zhai QX, Gui J, Zhang YX, Guo YX, Ding J, Hao Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):14-8. doi: 10.3760/cma.j.issn.1003-9406.2011.01.004. Chinese.

PMID:
21287502
12.

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF.

Nat Genet. 1995 Oct;11(2):201-3.

PMID:
7550350
13.

A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

Cho YW, Motamedi GK, Laufenberg I, Sohn SI, Lim JG, Lee H, Yi SD, Lee JH, Kim DK, Reba R, Gaillard WD, Theodore WH, Lesser RP, Steinlein OK.

Arch Neurol. 2003 Nov;60(11):1625-32.

PMID:
14623738
14.

Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.

Sáenz A, Galán J, Caloustian C, Lorenzo F, Márquez C, Rodríguez N, Jiménez MD, Poza JJ, Cobo AM, Grid D, Prud'homme JF, López de Munain A.

Arch Neurol. 1999 Aug;56(8):1004-9. Erratum in: Arch Neurol 2000 Aug;57(8):1150.

PMID:
10448807
15.

[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy].

Zhai QX, Wang C, Chen Q, Guo YX, Chen ZH, Zhang YX, Gui J, Tang ZH, Zhuo MQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):662-5. doi: 10.3760/cma.j.issn.1003-9406.2013.06.006. Chinese.

PMID:
24327142
16.

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.

Chen Y, Wu L, Fang Y, He Z, Peng B, Shen Y, Xu Q.

Epilepsy Res. 2009 Feb;83(2-3):152-6. doi: 10.1016/j.eplepsyres.2008.10.009. Epub 2008 Dec 5.

PMID:
19058950
17.

Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy.

De Marco EV, Gambardella A, Annesi F, Labate A, Carrideo S, Forabosco P, Civitelli D, Candiano IC, Tarantino P, Annesi G, Quattrone A.

Epilepsy Res. 2007 Apr;74(1):70-3. Epub 2007 Feb 26.

PMID:
17324557
18.

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC.

Am J Hum Genet. 1998 Oct;63(4):1108-16.

19.
20.

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. 2001 Jan;68(1):225-31. Epub 2000 Dec 5.

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