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Journal Abstract Search

1231 related items for PubMed ID: 19203856

  • 21. Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
    Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW.
    Epileptic Disord; 2010 Jun; 12(2):117-24. PubMed ID: 20562086
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  • 22. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
    Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E.
    J Med Genet; 2010 Jun; 47(6):404-10. PubMed ID: 20522430
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  • 23. Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
    Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S.
    Neuroscience; 2007 Aug 10; 148(1):164-74. PubMed ID: 17629415
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  • 24. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
    Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF.
    Epilepsia; 2005 Aug 10; 46 Suppl 10():41-7. PubMed ID: 16359471
    [No Abstract] [Full Text] [Related]

  • 25. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
    Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S.
    Brain Dev; 2009 Nov 10; 31(10):758-62. PubMed ID: 19783390
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  • 26. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
    Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF.
    Brain; 2007 Jan 10; 130(Pt 1):100-9. PubMed ID: 17020904
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  • 27. Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.
    Burgess DL.
    Epilepsia; 2005 Jan 10; 46 Suppl 10():51-8. PubMed ID: 16359473
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  • 28. 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 10; 5(1):21-5. PubMed ID: 12773292
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  • 29. Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).
    Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M.
    J Child Neurol; 2010 Oct 10; 25(10):1265-8. PubMed ID: 20110217
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  • 38. [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. PubMed ID: 19070316
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  • 40. 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 30; 11(2):170-6. PubMed ID: 22151702
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