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Items: 1 to 20 of 98

1.

Comment: Dravet syndrome--"old gene," novel mechanism.

Xu M.

Neurology. 2014 Apr 8;82(14):1250. doi: 10.1212/WNL.0000000000000300. Epub 2014 Mar 12.

PMID:
24623837
2.

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC.

Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12.

3.

Dravet syndrome and its mimics: Beyond SCN1A.

Steel D, Symonds JD, Zuberi SM, Brunklaus A.

Epilepsia. 2017 Nov;58(11):1807-1816. doi: 10.1111/epi.13889. Epub 2017 Sep 7. Review.

PMID:
28880996
4.

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
5.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

6.

The genetics of Dravet syndrome.

Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.

Epilepsia. 2011 Apr;52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review.

7.

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.

Hawkins NA, Zachwieja NJ, Miller AR, Anderson LL, Kearney JA.

PLoS Genet. 2016 Oct 21;12(10):e1006398. doi: 10.1371/journal.pgen.1006398. eCollection 2016 Oct.

8.

Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M.

J Child Neurol. 2010 Oct;25(10):1265-8. doi: 10.1177/0883073809357241. Epub 2010 Jan 28.

PMID:
20110217
9.

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
10.

Applications of next-generation whole exome sequencing.

Harding KE, Robertson NP.

J Neurol. 2014 Jun;261(6):1244-6. doi: 10.1007/s00415-014-7372-1. No abstract available.

PMID:
24838538
11.

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F.

Biochem Biophys Res Commun. 2011 May 20;408(4):654-7. doi: 10.1016/j.bbrc.2011.04.079. Epub 2011 Apr 21.

PMID:
21531204
12.
13.

A mutation in GABRB3 associated with Dravet syndrome.

Le SV, Le PHT, Le TKV, Kieu Huynh TT, Hang Do TT.

Am J Med Genet A. 2017 Aug;173(8):2126-2131. doi: 10.1002/ajmg.a.38282. Epub 2017 May 24.

PMID:
28544625
14.

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.

Yordanova I, Todorov T, Dimova P, Hristova D, Tincheva R, Litvinenko I, Yotovska O, Kremensky I, Todorova A.

Neurosci Lett. 2011 Apr 25;494(2):180-3. doi: 10.1016/j.neulet.2011.03.008. Epub 2011 Mar 15.

PMID:
21396429
15.

Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.

Fujiwara T.

Epilepsy Res. 2006 Aug;70 Suppl 1:S223-30. Epub 2006 Jun 27. Review.

PMID:
16806826
16.

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.

17.

The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.

Bayat A, Hjalgrim H, Møller RS.

Epilepsia. 2015 Apr;56(4):e36-9. doi: 10.1111/epi.12927. Epub 2015 Mar 16.

18.

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
19.

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, Dulac O, Chelly J, Afenjar A, Héron D, Leguern E, Beldjord C, Bienvenu T, Bahi-Buisson N.

Epilepsy Res. 2009 Nov;87(1):25-30. doi: 10.1016/j.eplepsyres.2009.07.004. Epub 2009 Sep 5.

PMID:
19734009
20.

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.

Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.

PMID:
12083760

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