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Journal Abstract Search

218 related items for PubMed ID: 32540801

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  • 3. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
    Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE.
    Epilepsia; 2017 Feb; 58(2):e26-e30. PubMed ID: 28084635
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  • 5. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
    Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R.
    Epilepsia; 2004 Feb; 45(2):149-58. PubMed ID: 14738422
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  • 7. 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 Feb; 18(4):426-31. PubMed ID: 25874779
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  • 8. A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy.
    Gauthier AC, Manganas LN, Mattson RH.
    J Clin Neurosci; 2017 Jun; 40():82-84. PubMed ID: 28262406
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  • 11. SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
    van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N.
    Brain; 2023 Dec 01; 146(12):5153-5167. PubMed ID: 37467479
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  • 13. Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE).
    Binini N, Sancini G, Villa C, Dal Magro R, Sansoni V, Rusconi R, Mantegazza M, Grioni D, Talpo F, Toselli M, Combi R.
    Brain Res; 2017 Dec 15; 1677():26-32. PubMed ID: 28951233
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  • 15. SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
    Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.
    J Hum Genet; 2008 Dec 15; 53(8):769-774. PubMed ID: 18566737
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  • 16. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.
    Bisulli F, Licchetta L, Baldassari S, Muccioli L, Marconi C, Cantalupo G, Myers C, Menghi V, Minardi R, Caporali L, Marini C, Guerrini R, Mefford HC, Tinuper P, Pippucci T.
    Epileptic Disord; 2019 Apr 01; 21(2):185-191. PubMed ID: 30977726
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  • 17. 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 01; 39():34-43. PubMed ID: 27236449
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  • 18. 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 01; 90(1-2):132-9. PubMed ID: 20452746
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  • 19. 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 01; 65(4):1046-1059. PubMed ID: 38410936
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  • 20. SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
    Peycheva V, Ivanova N, Kamenarova K, Panova M, Pacheva I, Ivanov I, Bojidarova M, Tacheva G, Stamatov D, Litvinenko I, Hristova D, Deneva D, Rodopska E, Slavkova E, Aleksandrova I, Simeonov E, Dimova P, Bojinova V, Mitev V, Jordanova A, Kaneva R.
    Turk J Pediatr; 2020 Apr 01; 62(5):711-725. PubMed ID: 33108073
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