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Items: 1 to 20 of 475

1.

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE.

Epilepsia. 2001 Jul;42(7):837-44.

2.

Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families.

Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G.

Epileptic Disord. 2001 Jan-Mar;3(1):29-32.

PMID:
11313220
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.

Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.

Singh R, Scheffer IE, Crossland K, Berkovic SF.

Ann Neurol. 1999 Jan;45(1):75-81.

PMID:
9894880
5.
6.

Genetic predisposition to severe myoclonic epilepsy in infancy.

Benlounis A, Nabbout R, Feingold J, Parmeggiani A, Guerrini R, Kaminska A, Dulac O.

Epilepsia. 2001 Feb;42(2):204-9.

7.

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
8.

[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.

9.

[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
10.

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
11.

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O.

Epilepsy Res. 2003 Oct;56(2-3):127-33.

PMID:
14642997
12.

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.

Herini ES, Gunadi, Harahap IS, Yusoff S, Morikawa S, Patria SY, Nishimura N, Sunartini, Sutaryo, Takada S, Matsuo M, Nishio H.

Epilepsy Res. 2010 Jun;90(1-2):132-9. doi: 10.1016/j.eplepsyres.2010.04.003. Epub 2010 May 10.

PMID:
20452746
13.

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
14.

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
15.

Myoclonic-astatic epilepsy.

Doose H.

Epilepsy Res Suppl. 1992;6:163-8. Review.

PMID:
1418479
16.

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
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.

[Clinical analysis of families with generalized epilepsy with febrile seizures plus].

Xi MJ, Huang XS, Wei JK, Zheng H, Jia YJ, Chamg XH, Zhang ZY, Fan YX, Gao L.

Zhongguo Dang Dai Er Ke Za Zhi. 2007 Oct;9(5):436-40. Chinese.

PMID:
17937853
19.
20.

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F.

Epilepsia. 2006 Oct;47(10):1629-35. Erratum in: Epilepsia. 2007 Feb;48(2):409.

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