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Results: 1 to 20 of 156

1.

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM.

Brain. 2011 Oct;134(Pt 10):2982-3010. doi: 10.1093/brain/awr129. Epub 2011 Jun 29.

PMID:
21719429
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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]
3.

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.

McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF.

Lancet Neurol. 2010 Jun;9(6):592-8. doi: 10.1016/S1474-4422(10)70107-1. Epub 2010 May 4.

PMID:
20447868
[PubMed - indexed for MEDLINE]
Free Article
4.

Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

Rilstone JJ, Coelho FM, Minassian BA, Andrade DM.

Epilepsia. 2012 Aug;53(8):1421-8. doi: 10.1111/j.1528-1167.2012.03583.x. Epub 2012 Jul 10.

PMID:
22780858
[PubMed - indexed for MEDLINE]
5.

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, Gennaro E, Zara F, Binelli S, Veggiotti P, Granata T.

Brain Dev. 2010 Jan;32(1):71-7. doi: 10.1016/j.braindev.2009.09.014. Epub 2009 Oct 24.

PMID:
19854600
[PubMed - indexed for MEDLINE]
6.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.

PMID:
24207121
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.

Verbeek NE, van Kempen M, Gunning WB, Renier WO, Westland B, Lindhout D, Brilstra EH.

Epilepsia. 2011 Apr;52(4):e23-5. doi: 10.1111/j.1528-1167.2011.02982.x. Epub 2011 Mar 3. Review.

PMID:
21371021
[PubMed - indexed for MEDLINE]
9.

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]
10.

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
11.

A functional null mutation of SCN1B in a patient with Dravet syndrome.

Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL.

J Neurosci. 2009 Aug 26;29(34):10764-78. doi: 10.1523/JNEUROSCI.2475-09.2009.

PMID:
19710327
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Child Neurology: Dravet syndrome: when to suspect the diagnosis.

Millichap JJ, Koh S, Laux LC, Nordli DR Jr.

Neurology. 2009 Sep 29;73(13):e59-62. doi: 10.1212/WNL.0b013e3181b9c880.

PMID:
19786689
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Comorbidities and predictors of health-related quality of life in Dravet syndrome.

Brunklaus A, Dorris L, Zuberi SM.

Epilepsia. 2011 Aug;52(8):1476-82. doi: 10.1111/j.1528-1167.2011.03129.x. Epub 2011 Jun 10.

PMID:
21668444
[PubMed - indexed for MEDLINE]
14.

SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.

Bender AC, Morse RP, Scott RC, Holmes GL, Lenck-Santini PP.

Epilepsy Behav. 2012 Mar;23(3):177-86. doi: 10.1016/j.yebeh.2011.11.022. Epub 2012 Feb 16. Review.

PMID:
22341965
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Neuroimaging and neuropathology of Dravet syndrome.

Guerrini R, Striano P, Catarino C, Sisodiya SM.

Epilepsia. 2011 Apr;52 Suppl 2:30-4. doi: 10.1111/j.1528-1167.2011.02998.x. Review.

PMID:
21463276
[PubMed - indexed for MEDLINE]
16.

Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.

Guerrini R, Falchi M.

Dev Med Child Neurol. 2011 Apr;53 Suppl 2:11-5. doi: 10.1111/j.1469-8749.2011.03966.x. Review.

PMID:
21504426
[PubMed - indexed for MEDLINE]
17.

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
18.

Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome.

Reyes IS, Hsieh DT, Laux LC, Wilfong AA.

Pediatrics. 2011 Sep;128(3):e699-702. doi: 10.1542/peds.2010-0887. Epub 2011 Aug 15.

PMID:
21844054
[PubMed - indexed for MEDLINE]
Free Article
19.

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF.

PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18.

PMID:
19763161
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Scheffer IE, Zhang YH, Jansen FE, Dibbens L.

Brain Dev. 2009 May;31(5):394-400. doi: 10.1016/j.braindev.2009.01.001. Epub 2009 Feb 8. Review.

PMID:
19203856
[PubMed - indexed for MEDLINE]

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