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Results: 1 to 20 of 234

1.

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF.

Am J Hum Genet. 2001 Apr;68(4):859-65. Epub 2001 Mar 13.

PMID:
11254444
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
11254445
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, Berkovic SF, Mulley JC.

Neurology. 2002 May 14;58(9):1426-9.

PMID:
12011299
[PubMed - indexed for MEDLINE]
5.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
[PubMed - indexed for MEDLINE]
6.

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A.

Nat Genet. 2000 Apr;24(4):343-5. No abstract available.

PMID:
10742094
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC.

Nat Genet. 1998 Aug;19(4):366-70.

PMID:
9697698
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.

Selmer KK, Egeland T, Solaas MH, Nakken KO, Kjeldsen MJ, Friis ML, Brandal K, Corey LA, Undlien DE.

Acta Neurol Scand. 2008 Apr;117(4):289-92. Epub 2007 Oct 10.

PMID:
17927801
[PubMed - indexed for MEDLINE]
11.

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

Li N, Zhang J, Guo JF, Yan XX, Xia K, Tang BS.

Neurosci Lett. 2010 Aug 23;480(3):211-4. doi: 10.1016/j.neulet.2010.06.040. Epub 2010 Jun 18.

PMID:
20600615
[PubMed - indexed for MEDLINE]
12.

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]
13.

A novel locus for generalized epilepsy with febrile seizures plus in French families.

Baulac S, Gourfinkel-An I, Couarch P, Depienne C, Kaminska A, Dulac O, Baulac M, LeGuern E, Nabbout R.

Arch Neurol. 2008 Jul;65(7):943-51. doi: 10.1001/archneur.65.7.943.

PMID:
18625863
[PubMed - indexed for MEDLINE]
14.

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

Ceulemans BP, Claes LR, Lagae LG.

Pediatr Neurol. 2004 Apr;30(4):236-43.

PMID:
15087100
[PubMed - indexed for MEDLINE]
15.

Clinical spectrum of SCN1A mutations.

Gambardella A, Marini C.

Epilepsia. 2009 May;50 Suppl 5:20-3. doi: 10.1111/j.1528-1167.2009.02115.x. Review.

PMID:
19469841
[PubMed - indexed for MEDLINE]
16.

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S.

Neurology. 2004 Jul 27;63(2):329-34. Review.

PMID:
15277629
[PubMed - indexed for MEDLINE]
17.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.

PMID:
17561957
[PubMed - indexed for MEDLINE]
18.

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.

Spampanato J, Escayg A, Meisler MH, Goldin AL.

J Neurosci. 2001 Oct 1;21(19):7481-90.

PMID:
11567038
[PubMed - indexed for MEDLINE]
Free Article
19.

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.

PMID:
19292758
[PubMed - indexed for MEDLINE]
20.

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.

Am J Hum Genet. 2001 Jun;68(6):1327-32. Epub 2001 May 15.

PMID:
11359211
[PubMed - indexed for MEDLINE]
Free PMC Article

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