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Journal Abstract Search

212 related items for PubMed ID: 31397114

  • 1.
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 5. Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
    Pizzino A, Whitehead M, Sabet Rasekh P, Murphy J, Helman G, Bloom M, Evans SH, Murnick JG, Conry J, Taft RJ, Simons C, Vanderver A, Adang LA.
    Am J Med Genet A; 2018 Jun; 176(6):1443-1448. PubMed ID: 29696782
    [Abstract] [Full Text] [Related]

  • 6. 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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  • 7. 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. 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 01; 108():107097. PubMed ID: 32402703
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 66():81-85. PubMed ID: 30818181
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  • 13. Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
    Yang S, Yang LM, Liao HM, Fang HJ, Ning ZS, Liao CS, Wu LW.
    Neurol Sci; 2022 Aug 01; 43(8):5039-5048. PubMed ID: 35352205
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  • 15. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K.
    Am J Med Genet A; 2016 Aug 01; 170(8):2173-6. PubMed ID: 27250579
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  • 17. Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.
    Çapan ÖY, Türkdoğan D, Atalay S, Çağlayan HS.
    Seizure; 2024 Mar 01; 116():126-132. PubMed ID: 37977948
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  • 18. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P, Xue J, Jiao XR, Zhang YH, Yang ZX.
    Zhonghua Er Ke Za Zhi; 2020 Jan 02; 58(1):35-40. PubMed ID: 31905474
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  • 20. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
    Yang Y, Zhang YH, Chen JY, Ma JH, Sun D, Yang XL, Zhang J, Chen Y, Wu XR.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):118-122. PubMed ID: 32102148
    [Abstract] [Full Text] [Related]

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