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Results: 1 to 20 of 181

Similar articles for PubMed (Select 16713920)

1.

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE.

Lancet Neurol. 2006 Jun;5(6):488-92.

PMID:
16713920
2.

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.

McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF.

Lancet Neurol. 2010 Jun;9(6):592-8. doi: 10.1016/S1474-4422(10)70107-1. Epub 2010 May 4.

3.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
4.

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F.

Neurology. 2003 Jun 24;60(12):1961-7.

PMID:
12821740
5.

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.

PMID:
12773292
6.

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.

PMID:
17561957
7.

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
8.

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].

Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A.

Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Hungarian.

PMID:
19070316
9.

[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].

Sun H, Zhang Y, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):121-7. doi: 10.3760/cma.j.issn.1003-9406.2009.02.001. Chinese.

PMID:
19350499
10.

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.

Am J Hum Genet. 2001 Jun;68(6):1327-32. Epub 2001 May 15.

11.

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M.

Brain Dev. 2005 Sep;27(6):424-30. Epub 2005 Jan 12.

PMID:
16122630
12.

Milder phenotype with SCN1A truncation mutation other than SMEI.

Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, Long YS, Yi YH, Liao WP.

Seizure. 2010 Sep;19(7):443-5. doi: 10.1016/j.seizure.2010.06.010. Epub 2010 Jul 14.

13.

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.

14.

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
15.

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P.

Hum Mutat. 2003 Jun;21(6):615-21.

PMID:
12754708
16.

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

Sun H, Zhang Y, Liu X, Ma X, Yang Z, Qin J, Jiang Y, Qi Y, Wu X.

J Hum Genet. 2010 Jul;55(7):421-7. doi: 10.1038/jhg.2010.39. Epub 2010 Apr 30.

PMID:
20431604
17.

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y.

Brain. 2003 Mar;126(Pt 3):531-46.

18.

Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome.

Reyes IS, Hsieh DT, Laux LC, Wilfong AA.

Pediatrics. 2011 Sep;128(3):e699-702. doi: 10.1542/peds.2010-0887. Epub 2011 Aug 15.

19.

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.

20.
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