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Items: 1 to 20 of 160

1.

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.

2.

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.

Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C, Patel J, Berkovic SF, Mulley JC, Steinlein OK, Bertrand D.

Mol Pharmacol. 2008 Aug;74(2):379-91. doi: 10.1124/mol.107.044545. Epub 2008 May 2.

3.

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.

Hoda JC, Wanischeck M, Bertrand D, Steinlein OK.

FEBS Lett. 2009 May 19;583(10):1599-604. doi: 10.1016/j.febslet.2009.04.024. Epub 2009 Apr 19.

4.

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
5.

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.

6.

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.

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

Epilepsia. 2002 Apr;43(4):362-4.

7.

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.

Matsushima N, Hirose S, Iwata H, Fukuma G, Yonetani M, Nagayama C, Hamanaka W, Matsunaka Y, Ito M, Kaneko S, Mitsudome A, Sugiyama H.

Epilepsy Res. 2002 Feb;48(3):181-6.

PMID:
11904236
8.

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
9.

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.

10.

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
11.
12.

Neuronal nicotinic receptors in human epilepsy.

Steinlein OK.

Eur J Pharmacol. 2000 Mar 30;393(1-3):243-7.

PMID:
10771020
13.

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
14.

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.

Leniger T, Kananura C, Hufnagel A, Bertrand S, Bertrand D, Steinlein OK.

Epilepsia. 2003 Jul;44(7):981-5.

15.

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.

16.

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
17.

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
18.

Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor.

Rodrigues-Pinguet NO, Pinguet TJ, Figl A, Lester HA, Cohen BN.

Mol Pharmacol. 2005 Aug;68(2):487-501. Epub 2005 May 18.

19.

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.

20.

Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.

Cho YW, Yi SD, Lim JG, Kim DK, Motamedi GK.

Epilepsy Behav. 2008 Aug;13(2):361-5. doi: 10.1016/j.yebeh.2008.04.017. Epub 2008 Jun 4.

PMID:
18534914

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