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Items: 1 to 20 of 43

1.

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.

Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.

PMID:
12083760
2.

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
3.

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.

4.
5.

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
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.

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. Review.

PMID:
19203856
8.

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. Review.

9.

Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.

Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, Hirose S, Mitsudome A, Kaneko S.

Adv Neurol. 2005;95:103-17. Review. No abstract available.

PMID:
15508916
10.

Molecular basis of severe myoclonic epilepsy in infancy.

Yamakawa K.

Brain Dev. 2009 May;31(5):401-4. doi: 10.1016/j.braindev.2008.11.015. Review.

PMID:
19203854
11.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
12.

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

Yamakawa K.

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

PMID:
16806834
13.

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. Review.

PMID:
19464834
14.

[Severe myoclonic epilepsy in infancy (Dravet's syndrome). Some genetic aspects].

Herranz JL.

Rev Neurol. 2003 Jul 1-15;37(1):60-3. Review. Spanish.

15.

Molecular genetics of Dravet syndrome.

De Jonghe P.

Dev Med Child Neurol. 2011 Apr;53 Suppl 2:7-10. doi: 10.1111/j.1469-8749.2011.03965.x. Review.

16.

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
17.

Dravet syndrome history.

Dravet C.

Dev Med Child Neurol. 2011 Apr;53 Suppl 2:1-6. doi: 10.1111/j.1469-8749.2011.03964.x. Review.

18.

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).

Scheffer IE, Wallace R, Mulley JC, Berkovic SF.

Brain Dev. 2001 Nov;23(7):732-5. Review.

PMID:
11701287
19.

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E, Bousser MG.

Neurology. 2009 Mar 31;72(13):1178-83. doi: 10.1212/01.wnl.0000345393.53132.8c. Review.

PMID:
19332696
20.

Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse.

Mullen SA, Scheffer IE.

Arch Neurol. 2009 Jan;66(1):21-6. doi: 10.1001/archneurol.2008.559. Review.

PMID:
19139296
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