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Journal Abstract Search

122 related items for PubMed ID: 31146092

  • 1. Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly.
    Iodice A, Spagnoli C, Frattini D, Salerno GG, Rizzi S, Fusco C.
    Seizure; 2019 Jul; 69():296-297. PubMed ID: 31146092
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  • 2. 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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  • 5. 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; 40(11):1149-1155. PubMed ID: 30315519
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  • 7. A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.
    Pelle A, Pezzoli L, Apuril E, Iascone M, Selicorni A.
    Clin Dysmorphol; 2021 Jan; 30(1):39-43. PubMed ID: 33086257
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  • 9. 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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  • 11. mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
    Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL.
    Brain; 2022 Jun 30; 145(6):1939-1948. PubMed ID: 35773235
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  • 13. A de novo ATXN2L variant in a child with developmental delay and macrocephaly.
    Alzahrani F, Albatti TH, Alkuraya FS.
    Am J Med Genet A; 2021 Mar 30; 185(3):949-951. PubMed ID: 33283965
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  • 15. 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
    Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C.
    Eur J Med Genet; 2014 Sep 30; 57(9):520-3. PubMed ID: 24932903
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  • 16. Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
    Jackson A, Banka S, Stewart H, Genomics England Research ConsortiumGenomics England, London, UK., Robinson H, Lovell S, Clayton-Smith J.
    Am J Med Genet A; 2021 Oct 30; 185(10):3083-3091. PubMed ID: 34061450
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  • 17. Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
    Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW.
    Mol Autism; 2017 Oct 30; 8():59. PubMed ID: 29152164
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  • 18. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
    Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C.
    J Med Genet; 2016 Dec 30; 53(12):820-827. PubMed ID: 27439707
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  • 19. Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
    Kamien B, Digilio MC, Novelli A, O'Donnell S, Bain N, Meldrum C, Dudding-Byth T, Scott RJ, Goel H.
    Eur J Med Genet; 2015 Nov 30; 58(11):629-33. PubMed ID: 26475974
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  • 20. SZT2 mutation in a boy with intellectual disability, seizures and autistic features.
    Kariminejad A, Yazdan H, Rahimian E, Kalhor Z, Fattahi Z, Zonooz MF, Najmabadi H, Ashrafi M.
    Eur J Med Genet; 2019 Sep 30; 62(9):103556. PubMed ID: 30359774
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