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Journal Abstract Search


822 related items for PubMed ID: 23158734

  • 21. 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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  • 24. 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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  • 26. A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy.
    Gauthier AC, Manganas LN, Mattson RH.
    J Clin Neurosci; 2017 Jun 01; 40():82-84. PubMed ID: 28262406
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  • 27. SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.
    Kivity S, Oliver KL, Afawi Z, Damiano JA, Arsov T, Bahlo M, Berkovic SF.
    Epilepsy Res; 2017 Mar 01; 131():9-14. PubMed ID: 28192756
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  • 28. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
    Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE.
    Epilepsia; 2009 Apr 01; 50(4):953-6. PubMed ID: 19292758
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  • 29. [Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome].
    Liu AJ, Yang XX, Xu XJ, Wu QX, Tian XJ, Yang XL, Wu XR, Wei LP, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2017 Nov 02; 55(11):818-823. PubMed ID: 29141311
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  • 31. Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.
    Kim J, Lee CG.
    Ann Clin Lab Sci; 2017 Mar 02; 47(2):229-235. PubMed ID: 28442529
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  • 32. 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 02; 74():8-13. PubMed ID: 31765958
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  • 33. Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.
    Fendri-Kriaa N, Kammoun F, Rebai A, Kolsi D, Hadj Salem I, Fakhfakh F, Triki C.
    Eur J Neurol; 2009 Jun 02; 16(6):697-704. PubMed ID: 19236456
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  • 36. Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
    Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL.
    Seizure; 2009 Sep 02; 18(7):492-7. PubMed ID: 19464195
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  • 38. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).
    Ma H, Guo Y, Chen Z, Wang L, Tang Z, Zhang J, Miao Q, Zhai Q.
    Seizure; 2021 May 02; 88():146-152. PubMed ID: 33895391
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