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Journal Abstract Search

213 related items for PubMed ID: 28556953

  • 1. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
    Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N.
    Clin Genet; 2018 Feb; 93(2):266-274. PubMed ID: 28556953
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  • 3. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
    Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S.
    Brain Dev; 2018 Feb; 40(2):134-139. PubMed ID: 28893434
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  • 4. Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.
    Trivisano M, Rivera M, Terracciano A, Ciolfi A, Napolitano A, Pepi C, Calabrese C, Digilio MC, Tartaglia M, Curatolo P, Vigevano F, Specchio N.
    Epilepsy Behav; 2020 Jul; 108():107097. PubMed ID: 32402703
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  • 6. Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
    Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP.
    Seizure; 2019 Mar; 66():81-85. PubMed ID: 30818181
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  • 7. Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.
    Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T.
    Epileptic Disord; 2020 Aug 01; 22(4):501-505. PubMed ID: 32723703
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  • 9. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
    Zhang X, Han Y, Yang L, Xu N, Zhu L, Qiu S, Li Y, Xu L, Yu X.
    Seizure; 2024 Jan 01; 114():111-120. PubMed ID: 38134649
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  • 10. A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.
    Naseer MI, Alwasiyah MK, Abdulkareem AA, Bajammal RA, Trujillo C, Abu-Elmagd M, Jafri MA, Chaudhary AG, Al-Qahtani MH.
    Genes Genomics; 2018 Nov 01; 40(11):1149-1155. PubMed ID: 30315519
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  • 11. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S, Li J, Wu Y, Jiang Y.
    J Hum Genet; 2020 Jul 01; 65(7):601-608. PubMed ID: 32203252
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  • 13. Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.
    Venkatesan C, Angle B, Millichap JJ.
    Epileptic Disord; 2016 Jun 01; 18(2):195-200. PubMed ID: 27248490
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  • 15. Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
    Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R.
    Brain; 2019 Dec 01; 142(12):3876-3891. PubMed ID: 31688942
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  • 18. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
    Epilepsia; 2014 Jul 01; 55(7):994-1000. PubMed ID: 24888894
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  • 20. SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
    Luo S, Ye XG, Jin L, Li H, He YY, Guan BZ, Gao LD, Liang XY, Wang PY, Lu XG, Yan HJ, Li BM, Chen YJ, Liu ZG.
    Front Mol Neurosci; 2023 Jul 01; 16():1162408. PubMed ID: 37213690
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