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Items: 1 to 20 of 289

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.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PMID:
18413471
3.

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.

4.

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802. Epub 2012 Jul 25.

5.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
6.

Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

Rilstone JJ, Coelho FM, Minassian BA, Andrade DM.

Epilepsia. 2012 Aug;53(8):1421-8. doi: 10.1111/j.1528-1167.2012.03583.x. Epub 2012 Jul 10.

7.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE.

Brain. 2007 Mar;130(Pt 3):843-52.

PMID:
17347258
8.

Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

Petrelli C, Passamonti C, Cesaroni E, Mei D, Guerrini R, Zamponi N, Provinciali L.

Epilepsy Res. 2012 Mar;99(1-2):21-7. doi: 10.1016/j.eplepsyres.2011.10.010. Epub 2011 Nov 8.

PMID:
22071555
9.

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.

10.

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, Zara F.

Epileptic Disord. 2003 Mar;5(1):21-5.

11.

SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features.

Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E.

Epilepsy Behav. 2009 Nov;16(3):555-7. doi: 10.1016/j.yebeh.2009.08.021. Epub 2009 Sep 24.

PMID:
19782004
12.

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP.

Genes Brain Behav. 2012 Mar;11(2):170-6. doi: 10.1111/j.1601-183X.2011.00756.x. Epub 2011 Dec 14.

13.

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
14.

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.

Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12.

15.

PCDH19 mutation in Japanese females with epilepsy.

Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S.

Epilepsy Res. 2012 Mar;99(1-2):28-37. doi: 10.1016/j.eplepsyres.2011.10.014. Epub 2011 Nov 1.

PMID:
22050978
16.

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.

Usluer S, Salar S, Arslan M, Yiş U, Kara B, Tektürk P, Baykan B, Meral C, Türkdoğan D, Bebek N, Yalçın Çapan Ö, Gündoğdu Eken A, Çağlayan SH.

Seizure. 2016 Jul;39:34-43. doi: 10.1016/j.seizure.2016.05.008. Epub 2016 May 19.

17.

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
18.

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
19.

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F.

Biochem Biophys Res Commun. 2011 May 20;408(4):654-7. doi: 10.1016/j.bbrc.2011.04.079. Epub 2011 Apr 21.

PMID:
21531204
20.

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.

Gokben S, Onay H, Yilmaz S, Atik T, Serdaroglu G, Tekin H, Ozkinay F.

Acta Neurol Belg. 2017 Mar;117(1):131-138. doi: 10.1007/s13760-016-0709-z. Epub 2016 Oct 12.

PMID:
27734276

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