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Journal Abstract Search

106 related items for PubMed ID: 33247513

  • 1. Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA.
    Alsaif HS, Khashab HYEL, Alkuraya FS.
    Am J Med Genet A; 2021 Feb; 185(2):604-607. PubMed ID: 33247513
    [No Abstract] [Full Text] [Related]

  • 2. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
    Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A.
    Am J Med Genet A; 2016 Aug; 170(8):2181-5. PubMed ID: 27170158
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  • 3. Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.
    Nelson K, Jackman C, Bell J, Shih CS, Payne K, Dlouhy S, Walsh L.
    J Child Neurol; 2018 Dec; 33(14):925-929. PubMed ID: 30311510
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  • 4. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
    Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH.
    Brain; 2007 Jul; 130(Pt 7):1929-41. PubMed ID: 17522105
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  • 5. Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.
    Aerden M, Vallaeys L, Holvoet M, De Waele L, Van Den Bogaert K, Devriendt K.
    Clin Dysmorphol; 2021 Jul 01; 30(3):121-124. PubMed ID: 33605605
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  • 6. Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population.
    Hutson J, Siu VM, Rupar CA.
    J Obstet Gynaecol Can; 2022 Jul 01; 44(7):798-802. PubMed ID: 35131504
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  • 7. MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy.
    Mattos AM, Marques AD, Parrela CP, Fish JM, Artigalas OA, Ranzan J, Winkcler MI, Ohlweiler L, Riesgo Rdos S.
    Arq Neuropsiquiatr; 2010 Aug 01; 68(4):642-4. PubMed ID: 20730324
    [No Abstract] [Full Text] [Related]

  • 8. 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 01; 185(10):3083-3091. PubMed ID: 34061450
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  • 9. STRADA-mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation.
    Dang LT, Vaid S, Lin G, Swaminathan P, Safran J, Loughman A, Lee M, Glenn T, Majolo F, Crino PB, Parent JM.
    Dev Neurobiol; 2021 Jul 01; 81(5):696-709. PubMed ID: 33619909
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  • 12. Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
    Redon S, Benech C, Schutz S, Despres A, Gueguen P, Le Berre P, Le Marechal C, Peudenier S, Meriot P, Parent P, Ferec C.
    Am J Med Genet A; 2017 May 01; 173(5):1444-1446. PubMed ID: 28371320
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  • 13. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
    Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB.
    Brain; 2015 Jun 01; 138(Pt 6):1613-28. PubMed ID: 25722288
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  • 15. Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.
    Ancora C, Marchi M, Bonardi CM, Sartori G, Lopreiato R, Zuccarello D, D'Errico I, Nosadini M, Sartori S, Boniver C, Toldo I, Salviati L.
    Pediatr Neurol; 2023 Nov 01; 148():152-156. PubMed ID: 37722301
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  • 20. 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 01; 40(2):134-139. PubMed ID: 28893434
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