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Items: 1 to 20 of 71

1.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S.

Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21.

2.

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
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.

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.

5.

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.

6.

Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood.

Zupanc ML.

J Child Neurol. 2009 Aug;24(8 Suppl):6S-14S. doi: 10.1177/0883073809338151. Review.

PMID:
19666878
7.

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. Epub 2011 Mar 3. Review.

8.

Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.

Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL.

Medicine (Baltimore). 1998 Jul;77(4):268-97. Review.

9.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
10.

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
11.

The contribution of next generation sequencing to epilepsy genetics.

Møller RS, Dahl HA, Helbig I.

Expert Rev Mol Diagn. 2015;15(12):1531-8. doi: 10.1586/14737159.2015.1113132. Epub 2015 Nov 13. Review.

PMID:
26565596
12.

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
13.

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
14.

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
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.

16.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S.

Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Review.

17.

[Genetic diagnosis for epilepsy].

Sugawara T, Kaneko S.

Nihon Rinsho. 2014 May;72(5):834-8. Review. Japanese.

PMID:
24912283
18.

Genetics of epilepsy and relevance to current practice.

Michelucci R, Pasini E, Riguzzi P, Volpi L, Dazzo E, Nobile C.

Curr Neurol Neurosci Rep. 2012 Aug;12(4):445-55. doi: 10.1007/s11910-012-0281-8. Review.

PMID:
22618127
19.

Pediatric epilepsy genetics.

Pandolfo M.

Curr Opin Neurol. 2013 Apr;26(2):137-45. doi: 10.1097/WCO.0b013e32835f19da. Review.

PMID:
23449174
20.

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Mastrangelo M.

Pediatr Neurol. 2015 Aug;53(2):119-29. doi: 10.1016/j.pediatrneurol.2015.04.001. Epub 2015 May 15. Review.

PMID:
26073591

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