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Results: 1 to 20 of 54

1.

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

Steinlein OK, Hoda JC, Bertrand S, Bertrand D.

Seizure. 2012 Mar;21(2):118-23. doi: 10.1016/j.seizure.2011.10.003. Epub 2011 Oct 28.

PMID:
22036597
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy.

Di Resta C, Ambrosi P, Curia G, Becchetti A.

Eur J Pharmacol. 2010 Sep 15;643(1):13-20. doi: 10.1016/j.ejphar.2010.05.063. Epub 2010 Jun 16.

PMID:
20561518
[PubMed - indexed for MEDLINE]
5.

Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation.

Carreño M, Garcia-Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, Rumià J, Pintor L, Setoain X.

Epileptic Disord. 2010 Jun;12(2):155-8. doi: 10.1684/epd.2010.0307. Epub 2010 May 18.

PMID:
20478764
[PubMed - indexed for MEDLINE]
6.

Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy.

Wood AG, Saling MM, Fedi M, Berkovic SF, Scheffer IE, Benjamin C, Reutens DC.

Epilepsy Behav. 2010 Apr;17(4):531-5. doi: 10.1016/j.yebeh.2010.01.168. Epub 2010 Feb 26.

PMID:
20189461
[PubMed - indexed for MEDLINE]
7.

Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE.

Epilepsia. 2010 Apr;51(4):655-70. doi: 10.1111/j.1528-1167.2009.02429.x. Epub 2010 Jan 19.

PMID:
20100225
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
19383498
[PubMed - indexed for MEDLINE]
Free Article
9.

Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors.

Picard F, Pegna AJ, Arntsberg V, Lucas N, Kaczmarek I, Todica O, Chiriaco C, Seeck M, Brodtkorb E.

Epilepsy Behav. 2009 Feb;14(2):354-9. doi: 10.1016/j.yebeh.2008.11.003. Epub 2008 Dec 6.

PMID:
19059498
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy.

El Helou J, Navarro V, Depienne C, Fedirko E, LeGuern E, Baulac M, An-Gourfinkel I, Adam C.

Clin Neurophysiol. 2008 Oct;119(10):2201-4. doi: 10.1016/j.clinph.2008.07.212. Epub 2008 Aug 31.

PMID:
18762450
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
18456869
[PubMed - indexed for MEDLINE]
Free Article
13.

Corticotropin releasing hormone (CRH) gene variation: comprehensive resequencing for variant and molecular haplotype discovery in monosomic hybrid cell lines.

Shimmin LC, Natarajan S, Ibarguen H, Montasser M, Kim DK, Hanis CL, Boerwinkle E, Wadhwa PD, Hixson JE.

DNA Seq. 2007 Dec;18(6):434-44.

PMID:
17676473
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G.

Am J Hum Genet. 2006 Aug;79(2):342-50. Epub 2006 Jun 26.

PMID:
16826524
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene.

Combi R, Dalprà L, Ferini-Strambi L, Tenchini ML.

Ann Neurol. 2005 Dec;58(6):899-904.

PMID:
16222669
[PubMed - indexed for MEDLINE]
17.

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.

Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, Steinlein OK.

Neurobiol Dis. 2005 Dec;20(3):799-804. Epub 2005 Jun 17.

PMID:
15964197
[PubMed - indexed for MEDLINE]
18.

Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".

di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F.

Eur J Paediatr Neurol. 2005;9(2):59-66. Review.

PMID:
15843070
[PubMed - indexed for MEDLINE]
19.

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.

Combi R, Dalprà L, Tenchini ML, Ferini-Strambi L.

J Neurol. 2004 Aug;251(8):923-34. Review.

PMID:
15316796
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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