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Items: 1 to 20 of 179

1.

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW.

Epileptic Disord. 2010 Jun;12(2):117-24. doi: 10.1684/epd.2010.0311.

2.

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
3.

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.

4.
5.

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
6.

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E.

J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328.

7.

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.

Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D, Marini C, Zamponi N.

Epilepsia. 2010 Dec;51(12):2474-7. doi: 10.1111/j.1528-1167.2010.02790.x. Epub 2010 Nov 18.

8.

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I.

Pediatr Neurol. 2010 Feb;42(2):137-40. doi: 10.1016/j.pediatrneurol.2009.09.007.

PMID:
20117752
9.

Parental SCN1A mutation mosaicism in familial Dravet syndrome.

Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE.

Clin Genet. 2009 Oct;76(4):398-403. doi: 10.1111/j.1399-0004.2009.01208.x. Epub 2009 Aug 10.

PMID:
19673951
10.

Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.

Stefanaki E, Aggelakou V, Orfanou M, Kokori E, Boutoufianakis S.

Acta Paediatr. 2006 Dec;95(12):1703-6.

PMID:
17129991
11.

A screening test for the prediction of Dravet syndrome before one year of age.

Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I.

Epilepsia. 2008 Apr;49(4):626-33. Epub 2007 Dec 11.

12.

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.

Herini ES, Gunadi, Harahap IS, Yusoff S, Morikawa S, Patria SY, Nishimura N, Sunartini, Sutaryo, Takada S, Matsuo M, Nishio H.

Epilepsy Res. 2010 Jun;90(1-2):132-9. doi: 10.1016/j.eplepsyres.2010.04.003. Epub 2010 May 10.

PMID:
20452746
13.

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.

14.

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE.

Epilepsia. 2009 Apr;50(4):953-6. doi: 10.1111/j.1528-1167.2009.02023.x. Epub 2009 Mar 9.

15.

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.

16.

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
17.

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
18.

A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.

Cui X, Zeng F, Liu Y, Zhang J, Archacki S, Zhan T, Du R, Tang Z, Liu J, Wang QK, Liu M.

Neurosci Lett. 2011 Sep 26;503(1):27-30. doi: 10.1016/j.neulet.2011.08.001. Epub 2011 Aug 6.

PMID:
21843600
19.

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.

J Hum Genet. 2008;53(8):769-74. doi: 10.1007/s10038-008-0306-y. Epub 2008 Jun 20.

PMID:
18566737
20.

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

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