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Items: 1 to 20 of 21

1.

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K.

Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9. Erratum in: Proc Natl Acad Sci U S A 2001 Aug 28;98(18):10515.

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.

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
4.

Progress in searching for the febrile seizure susceptibility genes.

Nakayama J.

Brain Dev. 2009 May;31(5):359-65. doi: 10.1016/j.braindev.2008.11.014. Epub 2009 Feb 7. Review.

PMID:
19201561
5.

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
6.

Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.

Burgess DL.

Epilepsia. 2005;46 Suppl 10:51-8. Review.

7.

How do mutant Nav1.1 sodium channels cause epilepsy?

Ragsdale DS.

Brain Res Rev. 2008 Jun;58(1):149-59. doi: 10.1016/j.brainresrev.2008.01.003. Epub 2008 Feb 7. Review.

PMID:
18342948
8.

Channelopathies as a genetic cause of epilepsy.

Mulley JC, Scheffer IE, Petrou S, Berkovic SF.

Curr Opin Neurol. 2003 Apr;16(2):171-6. Review.

PMID:
12644745
9.

[Progress in molecular genetics of generalized epilepsy with febrile seizures plus].

Sun HH, Zhang YH.

Beijing Da Xue Xue Bao. 2008 Apr;40(2):229-33. Review. Chinese.

10.

Clinical spectrum of SCN2A mutations.

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

Brain Dev. 2012 Aug;34(7):541-5. doi: 10.1016/j.braindev.2011.09.016. Epub 2011 Oct 24. Review.

PMID:
22029951
11.

The genetics of febrile seizures and related epilepsy syndromes.

Hirose S, Mohney RP, Okada M, Kaneko S, Mitsudome A.

Brain Dev. 2003 Aug;25(5):304-12. Review.

PMID:
12850508
12.

Insights into pathophysiology and therapy from a mouse model of Dravet syndrome.

Oakley JC, Kalume F, Catterall WA.

Epilepsia. 2011 Apr;52 Suppl 2:59-61. doi: 10.1111/j.1528-1167.2011.03004.x. Review.

13.

Sodium Channel Mutations and Epilepsy.

Catterall WA.

In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

14.

Sodium channels, inherited epilepsy, and antiepileptic drugs.

Catterall WA.

Annu Rev Pharmacol Toxicol. 2014;54:317-38. doi: 10.1146/annurev-pharmtox-011112-140232. Review.

PMID:
24392695
15.

Identification of epilepsy genes in human and mouse.

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

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

16.

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.

Drenth JP, Waxman SG.

J Clin Invest. 2007 Dec;117(12):3603-9. Review.

17.

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.

18.

Sodium channel beta subunits: anything but auxiliary.

Isom LL.

Neuroscientist. 2001 Feb;7(1):42-54. Review.

PMID:
11486343
19.

Dravet syndrome: insights from in vitro experimental models.

Mantegazza M.

Epilepsia. 2011 Apr;52 Suppl 2:62-9. doi: 10.1111/j.1528-1167.2011.03005.x. Review.

20.

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

Waxman SG, Merkies IS, Gerrits MM, Dib-Hajj SD, Lauria G, Cox JJ, Wood JN, Woods CG, Drenth JP, Faber CG.

Lancet Neurol. 2014 Nov;13(11):1152-60. doi: 10.1016/S1474-4422(14)70150-4. Review.

PMID:
25316021

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