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Results: 1 to 20 of 146

1.

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM.

Dev Med Child Neurol. 2013 Feb;55(2):154-61. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20.

PMID:
23163885
[PubMed - indexed for MEDLINE]
2.

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S; Epilepsy Genetic Study Group Japan.

Epilepsy Res. 2012 Dec;102(3):195-200. doi: 10.1016/j.eplepsyres.2012.06.006. Epub 2012 Jul 20.

PMID:
23195492
[PubMed - indexed for MEDLINE]
3.

SCN1A testing for epilepsy: application in clinical practice.

Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF; Genetics Commission of the International League Against Epilepsy.

Epilepsia. 2013 May;54(5):946-52. doi: 10.1111/epi.12168. Epub 2013 Apr 15.

PMID:
23586701
[PubMed - indexed for MEDLINE]
4.

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.

PMID:
22848613
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.

Verbeek NE, van der Maas NA, Jansen FE, van Kempen MJ, Lindhout D, Brilstra EH.

PLoS One. 2013 Jun 6;8(6):e65758. doi: 10.1371/journal.pone.0065758. Print 2013.

PMID:
23762420
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Genetic testing improves care for infantile-onset epilepsy: the story of SCN1A.

Berg AT.

Dev Med Child Neurol. 2013 Feb;55(2):102-3. doi: 10.1111/dmcn.12037. Epub 2012 Nov 27. No abstract available.

PMID:
23186389
[PubMed - indexed for MEDLINE]
7.

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM.

Brain. 2012 Aug;135(Pt 8):2329-36. doi: 10.1093/brain/aws151. Epub 2012 Jun 19.

PMID:
22719002
[PubMed - indexed for MEDLINE]
Free Article
8.

Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.

Kim DW, Lim BC, Kim KJ, Chae JH, Lee R, Lee SK.

Epilepsy Res. 2013 Oct;106(3):440-5. doi: 10.1016/j.eplepsyres.2013.06.012. Epub 2013 Aug 1.

PMID:
23916143
[PubMed - indexed for MEDLINE]
9.

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]
10.

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].

Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A.

Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Hungarian.

PMID:
19070316
[PubMed - indexed for MEDLINE]
11.

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.

Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE.

Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3.

PMID:
22386634
[PubMed - indexed for MEDLINE]
12.

Dravet syndrome--considerable delay in making the diagnosis.

Bremer A, Lossius MI, Nakken KO.

Acta Neurol Scand. 2012 May;125(5):359-62. doi: 10.1111/j.1600-0404.2011.01609.x. Epub 2011 Nov 2.

PMID:
22050316
[PubMed - indexed for MEDLINE]
13.

When should clinicians order genetic testing for Dravet syndrome?

Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE.

Pediatr Neurol. 2011 Nov;45(5):319-23. doi: 10.1016/j.pediatrneurol.2011.08.001.

PMID:
22000312
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].

Xu XJ, Zhang YH, Sun HH, Liu XY, Wu HS, Wu XR.

Zhonghua Er Ke Za Zhi. 2012 Aug;50(8):580-6. Chinese.

PMID:
23158734
[PubMed - indexed for MEDLINE]
15.

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.

Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.

Dev Med Child Neurol. 2014 Jan;56(1):85-90. doi: 10.1111/dmcn.12322. Epub 2013 Oct 25.

PMID:
24328833
[PubMed - indexed for MEDLINE]
16.

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.

Stafstrom CE.

J Child Neurol. 2009 Aug;24(8 Suppl):15S-23S. doi: 10.1177/0883073809338152. Review.

PMID:
19666879
[PubMed - indexed for MEDLINE]
17.

Dravet syndrome, what is new?

Al-Baradie RS.

Neurosciences (Riyadh). 2013 Jan;18(1):11-7. Review.

PMID:
23291792
[PubMed - indexed for MEDLINE]
18.

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.

Nabbout R, Chemaly N, Chipaux M, Barcia G, Bouis C, Dubouch C, Leunen D, Jambaqué I, Dulac O, Dellatolas G, Chiron C.

Orphanet J Rare Dis. 2013 Nov 13;8:176. doi: 10.1186/1750-1172-8-176.

PMID:
24225340
[PubMed - indexed for MEDLINE]
Free Article
19.

Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

Petrelli C, Passamonti C, Cesaroni E, Mei D, Guerrini R, Zamponi N, Provinciali L.

Epilepsy Res. 2012 Mar;99(1-2):21-7. doi: 10.1016/j.eplepsyres.2011.10.010. Epub 2011 Nov 8.

PMID:
22071555
[PubMed - indexed for MEDLINE]
20.

Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.

Craig AK, de Menezes MS, Saneto RP.

Seizure. 2012 Jan;21(1):17-20. doi: 10.1016/j.seizure.2011.08.010. Epub 2011 Sep 8.

PMID:
21906962
[PubMed - indexed for MEDLINE]
Free Article

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