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Journal Abstract Search

309 related items for PubMed ID: 36444437

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  • 3. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
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  • 4. [Clinical features of epilepsy in children with IRF2BPL gene variation].
    Niu Q, Yang Y, Niu XY, Chen Y, Liu WW, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2021 Jun 02; 59(6):506-510. PubMed ID: 34102826
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  • 6. [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
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  • 7. [Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].
    Jiao X, Gong P, Niu Y, Xu Z, Zhou Z, Yang Z.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2024 Oct 18; 56(5):781-787. PubMed ID: 39397454
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  • 8. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
    Liu WW, Yang Y, Niu XY, Cheng MM, Wang S, Wu Y, Yang ZX, Liu XY, Cai LX, Jiang YW, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2021 Oct 02; 59(10):859-864. PubMed ID: 34587683
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  • 18. [Clinical and genetic characteristics of children with STXBP1 encephalopathy].
    Cao JJ, Ji XN, Mao YY, Zhang PP, Liu WT, Zhang HZ, Ding N, Chen Q.
    Zhonghua Er Ke Za Zhi; 2020 Jun 02; 58(6):493-498. PubMed ID: 32521962
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  • 19. Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.
    Mastrangelo M, Greco C, Tolve M, Bartolini E, Russo A, Nicita F, Pruna D, Galli J, Favaro J, Terrone G, De Felice C, Pisani F.
    Seizure; 2024 Jul 02; 119():119-127. PubMed ID: 38851096
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  • 20. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ, Hu CH, Ma JH, Hu JS, Liu ZS, Sun D.
    Zhonghua Er Ke Za Zhi; 2021 Jul 02; 59(7):594-599. PubMed ID: 34405643
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