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Results: 1 to 20 of 320

1.

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller JC, Illig T, Wichmann HE, Lichtner P, Meitinger T, Strom TM, Zimprich A, Zimprich F.

Neurology. 2009 Mar 17;72(11):974-8. doi: 10.1212/01.wnl.0000344401.02915.00.

PMID:
19289736
[PubMed - indexed for MEDLINE]
2.

Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy.

Zhang C, Wong V, Ng PW, Lui CH, Sin NC, Wong KS, Baum L, Kwan P.

Epilepsia. 2010 Sep;51(9):1878-81. doi: 10.1111/j.1528-1167.2010.02587.x.

PMID:
20477842
[PubMed - indexed for MEDLINE]
3.

Replication of association between a SCN1A splice variant and febrile seizures.

Le Gal F, Salzmann A, Crespel A, Malafosse A.

Epilepsia. 2011 Oct;52(10):e135-8. doi: 10.1111/j.1528-1167.2011.03164.x. Epub 2011 Jul 18.

PMID:
21762453
[PubMed - indexed for MEDLINE]
4.

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH.

Am J Hum Genet. 2001 Apr;68(4):866-73. Epub 2001 Mar 14.

PMID:
11254445
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The lack of association between febrile convulsions and polymorphisms in SCN1A.

Chou IC, Peng CT, Tsai FJ, Huang CC, Shi YR, Tsai CH.

Epilepsy Res. 2003 Apr;54(1):53-7.

PMID:
12742596
[PubMed - indexed for MEDLINE]
6.

High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy.

Makoff A, Lai T, Barratt C, Valentin A, Moran N, Asherson P, Nashef L.

Epilepsia. 2010 Apr;51(4):694-8. doi: 10.1111/j.1528-1167.2009.02473.x. Epub 2009 Dec 22.

PMID:
20041941
[PubMed - indexed for MEDLINE]
7.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.

PMID:
17561957
[PubMed - indexed for MEDLINE]
8.

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.

Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S.

Epilepsy Res. 2002 Jan;48(1-2):15-23.

PMID:
11823106
[PubMed - indexed for MEDLINE]
9.

Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.

Vanoye CG, Lossin C, Rhodes TH, George AL Jr.

J Gen Physiol. 2006 Jan;127(1):1-14.

PMID:
16380441
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Lack of SCN1A mutations in familial febrile seizures.

Malacarne M, Madia F, Gennaro E, Vacca D, G├╝ney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F.

Epilepsia. 2002 May;43(5):559-62.

PMID:
12027919
[PubMed - indexed for MEDLINE]
12.

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

Ceulemans BP, Claes LR, Lagae LG.

Pediatr Neurol. 2004 Apr;30(4):236-43.

PMID:
15087100
[PubMed - indexed for MEDLINE]
13.

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.

Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S.

Brain Dev. 2009 Feb;31(2):179-82. doi: 10.1016/j.braindev.2008.06.001. Epub 2008 Jul 15.

PMID:
18632234
[PubMed - indexed for MEDLINE]
14.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PMID:
18413471
[PubMed - indexed for MEDLINE]
15.

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM.

J Child Neurol. 2009 Apr;24(4):503-8. doi: 10.1177/0883073808324537.

PMID:
19339291
[PubMed - indexed for MEDLINE]
16.

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S.

Neurology. 2004 Jul 27;63(2):329-34. Review.

PMID:
15277629
[PubMed - indexed for MEDLINE]
17.

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP.

Genes Brain Behav. 2012 Mar;11(2):170-6. doi: 10.1111/j.1601-183X.2011.00756.x. Epub 2011 Dec 14.

PMID:
22151702
[PubMed - indexed for MEDLINE]
18.

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL Jr.

J Neurosci. 2003 Dec 10;23(36):11289-95.

PMID:
14672992
[PubMed - indexed for MEDLINE]
Free Article
19.

Two novel mutations in SCN1A gene in Iranian patients with epilepsy.

Ebrahimi A, Houshmand M, Tonekaboni SH, Fallah Mahboob Passand MS, Zainali S, Moghadasi M.

Arch Med Res. 2010 Apr;41(3):207-14. doi: 10.1016/j.arcmed.2010.04.007.

PMID:
20682179
[PubMed - indexed for MEDLINE]
20.

SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.

Tang L, Lu X, Tao Y, Zheng J, Zhao P, Li K, Li L.

Gene. 2014 Jan 1;533(1):26-31. doi: 10.1016/j.gene.2013.09.071. Epub 2013 Sep 27. Review.

PMID:
24076350
[PubMed - indexed for MEDLINE]

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