Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 191

1.

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
2.

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.

3.

Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.

Jiang T, Shen Y, Chen H, Yuan Z, Mao S, Gao F.

Medicine (Baltimore). 2018 Dec;97(50):e13565. doi: 10.1097/MD.0000000000013565.

4.

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.

5.

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S.

PLoS One. 2017 Jul 7;12(7):e0180485. doi: 10.1371/journal.pone.0180485. eCollection 2017.

6.

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.

7.

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS.

Epilepsy Res. 2015 Jan;109:34-9. doi: 10.1016/j.eplepsyres.2014.10.008. Epub 2014 Oct 28.

PMID:
25524840
8.

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J.

Neurol Neurochir Pol. 2015;49(4):258-66. doi: 10.1016/j.pjnns.2015.06.006. Epub 2015 Jun 20.

PMID:
26188943
9.

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.

10.

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.

11.

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.

Miller AR, Hawkins NA, McCollom CE, Kearney JA.

Genes Brain Behav. 2014 Feb;13(2):163-72. doi: 10.1111/gbb.12099. Epub 2013 Nov 14.

12.

Novel and de novo mutations in pediatric refractory epilepsy.

Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B.

Mol Brain. 2018 Sep 5;11(1):48. doi: 10.1186/s13041-018-0392-5. Erratum in: Mol Brain. 2018 Oct 16;11(1):59.

13.

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.

Sharkia R, Hengel H, Schöls L, Athamna M, Bauer P, Mahajnah M.

J Med Case Rep. 2016 Mar 29;10:67. doi: 10.1186/s13256-016-0854-2. Review.

14.

A Transient Developmental Window of Fast-Spiking Interneuron Dysfunction in a Mouse Model of Dravet Syndrome.

Favero M, Sotuyo NP, Lopez E, Kearney JA, Goldberg EM.

J Neurosci. 2018 Sep 5;38(36):7912-7927. doi: 10.1523/JNEUROSCI.0193-18.2018. Epub 2018 Aug 13.

15.

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
16.

Two mild cases of Dravet syndrome with truncating mutation of SCN1A.

Takaori T, Kumakura A, Ishii A, Hirose S, Hata D.

Brain Dev. 2017 Jan;39(1):72-74. doi: 10.1016/j.braindev.2016.07.006. Epub 2016 Aug 17.

PMID:
27544716
17.

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K.

Epilepsia. 2012 Dec;53(12):e200-3. doi: 10.1111/epi.12040. Epub 2012 Nov 13.

18.

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S.

Brain Dev. 2009 Nov;31(10):758-62. doi: 10.1016/j.braindev.2009.08.009. Epub 2009 Sep 23.

PMID:
19783390
19.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20.

20.

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

Brunklaus A, Ellis R, Stewart H, Aylett S, Reavey E, Jefferson R, Jain R, Chakraborty S, Jayawant S, Zuberi SM.

Eur J Paediatr Neurol. 2015 Jul;19(4):484-8. doi: 10.1016/j.ejpn.2015.02.001. Epub 2015 Feb 21.

PMID:
25795284

Supplemental Content

Support Center