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PUBMED FOR HANDHELDS

Journal Abstract Search


776 related items for PubMed ID: 36087421

  • 1. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M, De Dominicis A, Micalizzi A, Ferretti A, Dentici ML, Terracciano A, Calabrese C, Vigevano F, Novelli G, Novelli A, Specchio N.
    Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
    [Abstract] [Full Text] [Related]

  • 2. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan; 62(1):e13-e21. PubMed ID: 33280099
    [Abstract] [Full Text] [Related]

  • 3. Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome.
    Kacker S, Phitsanuwong C, Oetomo A, Nordli DR.
    Epileptic Disord; 2024 Feb; 26(1):98-108. PubMed ID: 38100275
    [Abstract] [Full Text] [Related]

  • 4. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
    Oliver KL, Trivisano M, Mandelstam SA, De Dominicis A, Francis DI, Green TE, Muir AM, Chowdhary A, Hertzberg C, Goldhahn K, Metreau J, Prager C, Pinner J, Cardamone M, Myers KA, Leventer RJ, Lesca G, Bahlo M, Hildebrand MS, Mefford HC, Kaindl AM, Specchio N, Scheffer IE.
    Epilepsia; 2023 May; 64(5):1351-1367. PubMed ID: 36779245
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  • 8. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A, Zhou R, Gu Q, Liu M, Zhang B, Huang J, Yang B, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Chen X.
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
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  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
    Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.
    J Med Genet; 2006 Sep; 43(9):729-34. PubMed ID: 16611748
    [Abstract] [Full Text] [Related]

  • 12. GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
    Trivisano M, Santarone ME, Micalizzi A, Ferretti A, Dentici ML, Novelli A, Vigevano F, Specchio N.
    Seizure; 2020 Nov; 82():1-6. PubMed ID: 32977175
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  • 13. [Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].
    Wang T, Cheng MM, Liu WW, Tan QZ, Liu CH, Yang Y, Yang XL, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2024 Aug 02; 62(8):752-757. PubMed ID: 39039877
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  • 14. [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].
    Wang DH, Niu XY, Cheng MM, Chen Y, Yang Y, Yang XL, Yang ZX, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2022 Dec 02; 60(12):1317-1321. PubMed ID: 36444437
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  • 15. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
    Dilber C, Yücel G, Şahin Y.
    Clin Neurol Neurosurg; 2022 Dec 02; 223():107509. PubMed ID: 36356440
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  • 16. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
    Ye YZ, Duan J, Hu ZQ, Cao DZ, Liao JX, Chen L.
    Zhonghua Er Ke Za Zhi; 2022 Jun 02; 60(6):583-587. PubMed ID: 35658367
    [Abstract] [Full Text] [Related]

  • 17. The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.
    Sahly AN, Srour M, Buhas D, Scheffer IE, Myers KA.
    Eur J Paediatr Neurol; 2023 May 02; 44():46-50. PubMed ID: 37075569
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  • 18. A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.
    Keshri S, Goel AK, Shah S, Garg AK.
    Acta Biomed; 2022 Feb 21; 92(S1):e2021261. PubMed ID: 35188110
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  • 19. CHD2-related epilepsy: novel mutations and new phenotypes.
    Chen J, Zhang J, Liu A, Zhang L, Li H, Zeng Q, Yang Z, Yang X, Wu X, Zhang Y.
    Dev Med Child Neurol; 2020 May 21; 62(5):647-653. PubMed ID: 31677157
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  • 20. First report of Tunisian patients with CDKL5-related encephalopathy.
    Charfi Triki C, Zouari Mallouli S, Ben Jdila M, Ben Said M, Kamoun Feki F, Weckhuysen S, Masmoudi S, Fakhfakh F.
    Epilepsia Open; 2024 Jun 21; 9(3):906-917. PubMed ID: 37701975
    [Abstract] [Full Text] [Related]


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