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Journal Abstract Search

144 related items for PubMed ID: 35347702

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  • 4. 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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  • 6. A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
    Madrigal I, Alvarez-Mora MI, Rosell J, Rodríguez-Revenga L, Karlberg O, Sauer S, Syvänen AC, Mila M.
    Eur J Hum Genet; 2016 Aug; 24(8):1117-23. PubMed ID: 26733290
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  • 7. IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
    Shoubridge C, Harvey RJ, Dudding-Byth T.
    Hum Mutat; 2019 Jan; 40(1):5-24. PubMed ID: 30328660
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  • 8. 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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  • 9. 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 Oct; 99():. PubMed ID: 32529990
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  • 11. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
    Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.
    Eur J Hum Genet; 2017 Jun; 25(6):763-767. PubMed ID: 28295038
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  • 12. Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.
    Hinze SJ, Jackson MR, Lie S, Jolly L, Field M, Barry SC, Harvey RJ, Shoubridge C.
    Transl Psychiatry; 2017 May 02; 7(5):e1110. PubMed ID: 28463240
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  • 13. Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
    Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B.
    Int J Mol Sci; 2022 Aug 22; 23(16):. PubMed ID: 36012761
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  • 14. IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.
    Liu X, Zhang S, Wan L, Zhang X, Wang H, Zhang H, Zhu G, Liang Y, Yan H, Zhang B, Yang G.
    Front Mol Neurosci; 2022 Aug 22; 15():984776. PubMed ID: 36267700
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  • 16. Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
    Sah M, Shore AN, Petri S, Kanber A, Yang M, Weston MC, Frankel WN.
    Neurobiol Dis; 2020 Apr 22; 137():104758. PubMed ID: 31978606
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  • 17. Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.
    Jackson MR, Loring KE, Homan CC, Thai MH, Määttänen L, Arvio M, Jarvela I, Shaw M, Gardner A, Gecz J, Shoubridge C.
    Life Sci Alliance; 2019 Aug 22; 2(4):. PubMed ID: 31439632
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  • 18. C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.
    Nakashima M, Shiroshima T, Fukaya M, Sugawara T, Sakagami H, Yamazawa K.
    J Hum Genet; 2024 Apr 22; 69(3-4):119-123. PubMed ID: 38200111
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  • 20. [Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability].
    Wu R, Tang W, Qiu K, Tang D, Li X, Luo X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug 10; 37(8):823-827. PubMed ID: 32761587
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