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Items: 1 to 20 of 21

1.

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE.

Lancet Neurol. 2006 Jun;5(6):488-92.

PMID:
16713920
2.

NaV1.1 channels and epilepsy.

Catterall WA, Kalume F, Oakley JC.

J Physiol. 2010 Jun 1;588(Pt 11):1849-59. doi: 10.1113/jphysiol.2010.187484. Epub 2010 Mar 1. Review.

3.

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
4.

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
5.

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.

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.
8.

Na channel gene mutations in epilepsy--the functional consequences.

Yamakawa K.

Epilepsy Res. 2006 Aug;70 Suppl 1:S218-22. Epub 2006 Jun 27. Review.

PMID:
16806834
9.

SCN1A mutations and epilepsy.

Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.

Hum Mutat. 2005 Jun;25(6):535-42. Review.

PMID:
15880351
10.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

11.

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
12.

SCN1A-Related Seizure Disorders.

Miller IO, Sotero de Menezes MA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2007 Nov 29 [updated 2014 May 15].

13.

Identification of epilepsy genes in human and mouse.

Meisler MH, Kearney J, Ottman R, Escayg A.

Annu Rev Genet. 2001;35:567-88. Review.

14.

Genotype phenotype associations across the voltage-gated sodium channel family.

Brunklaus A, Ellis R, Reavey E, Semsarian C, Zuberi SM.

J Med Genet. 2014 Oct;51(10):650-8. doi: 10.1136/jmedgenet-2014-102608. Epub 2014 Aug 27. Review.

PMID:
25163687
15.

[Sodium channel alpha-1-subunit gene mutations and epilepsy].

Wang JW, Ge LJ, Sun RP.

Zhonghua Er Ke Za Zhi. 2008 Oct;46(10):797-800. Review. Chinese. No abstract available.

PMID:
19099891
16.

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

Wagnon JL, Meisler MH.

Front Neurol. 2015 May 15;6:104. doi: 10.3389/fneur.2015.00104. eCollection 2015. Review.

17.

Epilepsy: randomised trials and genetic tribulations.

Brodie MJ.

Lancet Neurol. 2008 Jan;7(1):7-8. Review. No abstract available.

PMID:
18093548
18.

Drosophila sodium channel mutations: Contributions to seizure-susceptibility.

Kroll JR, Saras A, Tanouye MA.

Exp Neurol. 2015 Dec;274(Pt A):80-7. doi: 10.1016/j.expneurol.2015.06.018. Epub 2015 Jun 18. Review.

PMID:
26093037
19.

Seizing control of epileptic activity can improve outcome.

Chapman KE, Specchio N, Shinnar S, Holmes GL.

Epilepsia. 2015 Oct;56(10):1482-5. doi: 10.1111/epi.13109. Epub 2015 Aug 21. Review.

PMID:
26293783
20.

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

Lim CX, Ricos MG, Dibbens LM, Heron SE.

J Med Genet. 2016 Apr;53(4):217-25. doi: 10.1136/jmedgenet-2015-103508. Epub 2016 Jan 6. Review.

PMID:
26740507
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