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Journal Abstract Search

128 related items for PubMed ID: 37543484

  • 1. Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy.
    Sano K, Miya F, Kato M, Omata T, Takanashi JI.
    Brain Dev; 2023 Nov; 45(10):583-587. PubMed ID: 37543484
    [Abstract] [Full Text] [Related]

  • 2. Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy.
    Sakata Y, Sano K, Aoki S, Saitsu H, Takanashi JI.
    Brain Dev; 2022 Jun; 44(6):415-420. PubMed ID: 35219564
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
    Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.
    Am J Med Genet A; 2018 Jul; 176(7):1549-1558. PubMed ID: 30160831
    [Abstract] [Full Text] [Related]

  • 5. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
    Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE.
    Epilepsia; 2018 Jan; 59(1):e5-e13. PubMed ID: 29171013
    [Abstract] [Full Text] [Related]

  • 6. De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
    Su T, Yan Y, Hu Q, Liu Y, Xu S.
    Mol Genet Genomic Med; 2022 Mar; 10(3):e1874. PubMed ID: 35099838
    [Abstract] [Full Text] [Related]

  • 7. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Na JH, Shin S, Yang D, Kim B, Kim HD, Kim S, Lee JS, Choi JR, Lee ST, Kang HC.
    Brain Dev; 2020 Jun; 42(6):438-448. PubMed ID: 32139178
    [Abstract] [Full Text] [Related]

  • 8. SCFFBXO28-mediated self-ubiquitination of FBXO28 promotes its degradation.
    Cai L, Liu L, Li L, Jia L.
    Cell Signal; 2020 Jan; 65():109440. PubMed ID: 31678254
    [Abstract] [Full Text] [Related]

  • 9. Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy.
    Matsubara K, Kuki I, Ishioka R, Yamada N, Fukuoka M, Inoue T, Nukui M, Okamoto N, Mizuguchi T, Matsumoto N, Okazaki S.
    Epileptic Disord; 2024 Feb; 26(1):139-143. PubMed ID: 38009673
    [Abstract] [Full Text] [Related]

  • 10. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S, Li J, Wu Y, Jiang Y.
    J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
    [Abstract] [Full Text] [Related]

  • 11. NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases.
    Yoganathan S, Arunachal G, Gowda VK, Vinayan KP, Thomas M, Whitney R, Jain P.
    Seizure; 2021 Nov; 92():52-55. PubMed ID: 34425480
    [Abstract] [Full Text] [Related]

  • 12. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
    Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA.
    J Med Genet; 2019 Feb; 56(2):113-122. PubMed ID: 30323019
    [Abstract] [Full Text] [Related]

  • 13. CDK-mediated activation of the SCF(FBXO) (28) ubiquitin ligase promotes MYC-driven transcription and tumourigenesis and predicts poor survival in breast cancer.
    Cepeda D, Ng HF, Sharifi HR, Mahmoudi S, Cerrato VS, Fredlund E, Magnusson K, Nilsson H, Malyukova A, Rantala J, Klevebring D, Viñals F, Bhaskaran N, Zakaria SM, Rahmanto AS, Grotegut S, Nielsen ML, Szigyarto CA, Sun D, Lerner M, Navani S, Widschwendter M, Uhlén M, Jirström K, Pontén F, Wohlschlegel J, Grandér D, Spruck C, Larsson LG, Sangfelt O.
    EMBO Mol Med; 2013 Jul; 5(7):1067-86. PubMed ID: 23776131
    [Abstract] [Full Text] [Related]

  • 14. FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination.
    Liu S, Liu P, Zhu C, Yang R, He Z, Li Y, Li Y, Fei X, Hou J, Wang X, Pan Y.
    Aging (Albany NY); 2023 Jun 21; 15(12):5381-5398. PubMed ID: 37348029
    [Abstract] [Full Text] [Related]

  • 15. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
    Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR.
    Epilepsia; 2021 Feb 21; 62(2):325-334. PubMed ID: 33410528
    [Abstract] [Full Text] [Related]

  • 16. A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report.
    Saleh M, Helmi M, Yacop B.
    Pak J Biol Sci; 2020 Jan 21; 23(7):973-976. PubMed ID: 32700846
    [Abstract] [Full Text] [Related]

  • 17. Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.
    Faqeih EA, Almannai M, Saleh MM, AlWadei AH, Samman MM, Alkuraya FS.
    Clin Genet; 2018 May 21; 93(5):1081-1086. PubMed ID: 29406573
    [Abstract] [Full Text] [Related]

  • 18. Mutations of PTPN23 in developmental and epileptic encephalopathy.
    Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G.
    Hum Genet; 2017 Nov 21; 136(11-12):1455-1461. PubMed ID: 29090338
    [Abstract] [Full Text] [Related]

  • 19. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
    Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M.
    Hum Genet; 2019 Feb 21; 138(2):187-198. PubMed ID: 30656450
    [Abstract] [Full Text] [Related]

  • 20. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V.
    Semin Pediatr Neurol; 2018 Jul 21; 26():28-32. PubMed ID: 29961512
    [Abstract] [Full Text] [Related]

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