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Journal Abstract Search

294 related items for PubMed ID: 31829726

  • 1. A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.
    Choi MH, Yang JO, Min JS, Lee JJ, Jun SY, Lee YJ, Yoon JY, Jeon SJ, Byeon I, Kang JW, Kim NS.
    Genet Test Mol Biomarkers; 2020 Jan; 24(1):54-58. PubMed ID: 31829726
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  • 2. A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing.
    Zou Q, Zheng J, Zhang R, Fang Y, Cai C.
    Psychiatr Genet; 2019 Dec; 29(6):243-247. PubMed ID: 31490346
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  • 7. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
    Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S.
    J Genet Couns; 2014 Jun; 23(3):289-98. PubMed ID: 24306141
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  • 9. Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project.
    Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E, EPGP Investigators.
    Epilepsia; 2013 Nov; 54(11):1898-904. PubMed ID: 24116958
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  • 10. Characteristics of Genetic Variations Associated With Lennox-Gastaut Syndrome in Korean Families.
    Yang JO, Choi MH, Yoon JY, Lee JJ, Nam SO, Jun SY, Kwon HH, Yun S, Jeon SJ, Byeon I, Halder D, Kong J, Lee B, Lee J, Kang JW, Kim NS.
    Front Genet; 2020 Nov; 11():590924. PubMed ID: 33584793
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  • 11. Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
    Accogli A, Eric Jarvis G, Schiavetto A, Lai L, Amirali EL, Jimenez Cruz DA, Rivière JB, Trakadis Y.
    J Genet; 2020 Nov; 99():. PubMed ID: 32529990
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  • 13. Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
    Wayhelova M, Ryzí M, Oppelt J, Hladilkova E, Vallova V, Krskova L, Vilemova M, Polackova H, Gaillyova R, Kuglik P.
    Neurogenetics; 2020 Oct; 21(4):269-278. PubMed ID: 32564198
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  • 14. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
    Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.
    Genet Med; 2019 Apr; 21(4):837-849. PubMed ID: 30206421
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  • 15. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
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  • 16. Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant.
    Izumi T, Aihara Y, Kikuchi A, Kure S.
    Brain Dev; 2021 May 02; 43(5):652-656. PubMed ID: 33494955
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  • 18. [Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
    Li Y, Qin L, Yang K, Chen X, Zhu H, Mi L, Wang Y, Ma X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):533-539. PubMed ID: 38684296
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