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Items: 1 to 20 of 52

1.

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.

2.

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.

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.

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
5.

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
6.

[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.

7.

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

Hahn A, Neubauer BA.

Brain Dev. 2009 Aug;31(7):515-20. doi: 10.1016/j.braindev.2009.04.012. Epub 2009 May 22. Review.

PMID:
19464834
8.

Genes and mutations in idiopathic epilepsy.

Steinlein OK.

Am J Med Genet. 2001 Summer;106(2):139-45. Review.

PMID:
11579434
9.

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
10.

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.

Stafstrom CE.

J Child Neurol. 2009 Aug;24(8 Suppl):15S-23S. doi: 10.1177/0883073809338152. Review.

PMID:
19666879
11.

Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.

Burgess DL.

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

12.

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).

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

Epilepsia. 2005;46 Suppl 10:41-7. Review. No abstract available.

13.

Sodium channel SCN1A and epilepsy: mutations and mechanisms.

Escayg A, Goldin AL.

Epilepsia. 2010 Sep;51(9):1650-8. doi: 10.1111/j.1528-1167.2010.02640.x. Review.

14.

Genes and loci involved in febrile seizures and related epilepsy syndromes.

Audenaert D, Van Broeckhoven C, De Jonghe P.

Hum Mutat. 2006 May;27(5):391-401. Review.

PMID:
16550559
15.

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.

16.

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
17.

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
18.
19.

Mutations of voltage-gated sodium channels in movement disorders and epilepsy.

Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A.

Novartis Found Symp. 2002;241:72-81; discussion 82-6, 226-32. Review.

PMID:
11771652
20.

[Autosomal dominant epilepsy with febrile seizures plus].

Ito M.

Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):336-40. Review. Japanese. No abstract available.

PMID:
12483896
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