BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 38923778)

  • 1. A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
    Murthy MC; Banerjee B; Shetty M; Mariappan M; Sekhsaria A
    Epileptic Disord; 2024 Jun; ():. PubMed ID: 38923778
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
    Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
    Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
    Luiza Benevides M; de Moraes HT; Granados DMM; Bonadia LC; Sauma L; Augusta Montenegro M; Guerreiro MM; Lopes-Cendes Í; Carolina Coan A
    Epilepsy Behav; 2024 Jun; 155():109762. PubMed ID: 38636144
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cohort of Phenotype, Genotype, and Outcome of
    Gowda VK; Battina M; Vegda H; Srinivasan VM; Chikara SK; Mishra A; Shivappa SK; Benakappa N
    J Pediatr Genet; 2023 Mar; 12(1):32-41. PubMed ID: 36684540
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Infantile epileptic encephalopathies: what matters is genetics].
    Garcia-Penas JJ; Jimenez-Legido M
    Rev Neurol; 2017 May; 64(s03):S65-S69. PubMed ID: 28524223
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.
    Essajee F; Urban M; Smit L; Wilmshurst JM; Solomons R; van Toorn R; Moosa S
    Seizure; 2022 Oct; 101():197-204. PubMed ID: 36084525
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Current understanding and neurobiology of epileptic encephalopathies.
    Auvin S; Cilio MR; Vezzani A
    Neurobiol Dis; 2016 Aug; 92(Pt A):72-89. PubMed ID: 26992889
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort.
    Jose M; Fasaludeen A; Pavuluri H; Rudrabhatla PK; Chandrasekharan SV; Jose J; Banerjee M; Sundaram S; Radhakrishnan A; Menon RN
    Seizure; 2024 Feb; 115():20-27. PubMed ID: 38183824
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
    Sedlackova L; Sterbova K; Vlckova M; Seeman P; Zarubova J; Marusic P; Krsek P; Krijtova H; Musilova A; Lassuthova P
    Eur J Paediatr Neurol; 2024 Jan; 48():17-29. PubMed ID: 38008000
    [TBL] [Abstract][Full Text] [Related]  

  • 13. West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.
    Kalra V; Gulati S; Pandey RM; Menon S
    Brain Dev; 2002 Mar; 24(2):130-9. PubMed ID: 11891107
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
    Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
    [TBL] [Abstract][Full Text] [Related]  

  • 15. West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.
    Kalra V; Gulati S; Pandey RM; Menon S
    Brain Dev; 2001 Nov; 23(7):593-602. PubMed ID: 11701262
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].
    Hoffman-Zacharska D; Górka-Skoczylas P
    Dev Period Med; 2017; 21(4):317-327. PubMed ID: 29291359
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
    Gürsoy S; Erçal D
    J Child Neurol; 2016 Mar; 31(4):523-32. PubMed ID: 26271793
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
    Whitney R; Jain P; RamachandranNair R; Jones KC; Kiani H; Tarnopolsky M; Meaney B
    Epilepsia Open; 2023 Jun; 8(2):623-632. PubMed ID: 37067065
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.