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PUBMED FOR HANDHELDS

Journal Abstract Search


454 related items for PubMed ID: 27236449

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  • 2. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ, Zhang YH, Sun HH, Liu XY, Wu HS, Wu XR.
    Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
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  • 3. Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.
    Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D.
    Dev Period Med; 2014 Aug; 18(4):426-31. PubMed ID: 25874779
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  • 4. 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):1678-1685. PubMed ID: 17561957
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  • 5. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
    Till Á, Zima J, Fekete A, Bene J, Czakó M, Szabó A, Melegh B, Hadzsiev K.
    Seizure; 2020 Jan; 74():8-13. PubMed ID: 31765958
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  • 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. PubMed ID: 18413471
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  • 9. 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. PubMed ID: 15277629
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  • 10. Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
    Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A.
    Epilepsia; 2024 Apr 27; 65(4):1046-1059. PubMed ID: 38410936
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  • 11. 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 27; 54(5):946-52. PubMed ID: 23586701
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  • 12. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
    Hawkins NA, Zachwieja NJ, Miller AR, Anderson LL, Kearney JA.
    PLoS Genet; 2016 Oct 27; 12(10):e1006398. PubMed ID: 27768696
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  • 13. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
    Ceulemans BP, Claes LR, Lagae LG.
    Pediatr Neurol; 2004 Apr 27; 30(4):236-43. PubMed ID: 15087100
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  • 17. De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).
    Jaimes A, Guerrero-López R, González-Giráldez B, Serratosa JM.
    Epileptic Disord; 2020 Jun 01; 22(3):323-326. PubMed ID: 32540801
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  • 20. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
    Mei D, Cetica V, Marini C, Guerrini R.
    Epilepsia; 2019 Dec 01; 60 Suppl 3():S2-S7. PubMed ID: 31904125
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