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Items: 1 to 20 of 112

1.

Molecular biology of epilepsy genes.

Williams CA, Battaglia A.

Exp Neurol. 2013 Jun;244:51-8. doi: 10.1016/j.expneurol.2011.12.001. Epub 2011 Dec 9. Review.

PMID:
22178301
2.

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
3.

SCN1A testing for epilepsy: application in clinical practice.

Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF; Genetics Commission of the International League Against Epilepsy..

Epilepsia. 2013 May;54(5):946-52. doi: 10.1111/epi.12168. Epub 2013 Apr 15.

4.

Recent advances in the molecular genetics of epilepsy.

Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF.

J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. Review.

PMID:
23468209
5.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

EPICURE Consortium.; EMINet Consortium., Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.

Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.

PMID:
22949513
6.

Genetics of the epilepsies.

Gutierrez-Delicado E, Serratosa JM.

Curr Opin Neurol. 2004 Apr;17(2):147-53. Review.

PMID:
15021241
7.

Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.

Appenzeller S, Helbig I, Stephani U, Häusler M, Kluger G, Bungeroth M, Müller S, Kuhlenbäumer G, van Baalen A.

Dev Med Child Neurol. 2012 Dec;54(12):1144-8. doi: 10.1111/j.1469-8749.2012.04435.x. Epub 2012 Oct 15.

8.

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
9.

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
10.

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S; Epilepsy Genetic Study Group Japan..

Epilepsy Res. 2012 Dec;102(3):195-200. doi: 10.1016/j.eplepsyres.2012.06.006. Epub 2012 Jul 20.

PMID:
23195492
11.

Genetics of the epilepsies.

Berkovic SF, Scheffer IE.

Epilepsia. 2001;42 Suppl 5:16-23. Review.

12.

Genetic testing of epileptic encephalopathies of infancy: an approach.

Sharma S, Prasad AN.

Can J Neurol Sci. 2013 Jan;40(1):10-6. Review.

PMID:
23250121
13.

Genetics of idiopathic epilepsies.

Nabbout R, Scheffer IE.

Handb Clin Neurol. 2013;111:567-78. doi: 10.1016/B978-0-444-52891-9.00059-2. Review.

PMID:
23622204
14.

Genes and mutations in human idiopathic epilepsy.

Steinlein OK.

Brain Dev. 2004 Jun;26(4):213-8. Review.

PMID:
15130686
15.

Susceptibility genes for complex epilepsy.

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

Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. Review.

PMID:
16244322
16.

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.

Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE.

Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3.

PMID:
22386634
17.

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.

18.

Genetic testing improves care for infantile-onset epilepsy: the story of SCN1A.

Berg AT.

Dev Med Child Neurol. 2013 Feb;55(2):102-3. doi: 10.1111/dmcn.12037. Epub 2012 Nov 27. No abstract available.

19.

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, Dulac O, Chelly J, Afenjar A, Héron D, Leguern E, Beldjord C, Bienvenu T, Bahi-Buisson N.

Epilepsy Res. 2009 Nov;87(1):25-30. doi: 10.1016/j.eplepsyres.2009.07.004. Epub 2009 Sep 5.

PMID:
19734009
20.

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM.

Dev Med Child Neurol. 2013 Feb;55(2):154-61. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20.

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