BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 38400608)

  • 1. Type 1 early infantile epileptic encephalopathy: A case report and literature review.
    Zaker E; Nouri N; Movahedinia M; Dadbinpour A; Vahidi Mehrjardi MY
    Mol Genet Genomic Med; 2024 Feb; 12(2):e2412. PubMed ID: 38400608
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
    Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Generation of an induced pluripotent stem cell line (OGHFUi001-A) from a type 1 early infantile epileptic encephalopathy with ARX mutation.
    Jia N; Gong X; Chen J; Yang T; Bao C; Shen J; Xiao X
    Stem Cell Res; 2021 May; 53():102367. PubMed ID: 34087996
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
    Kato M; Saitoh S; Kamei A; Shiraishi H; Ueda Y; Akasaka M; Tohyama J; Akasaka N; Hayasaka K
    Am J Hum Genet; 2007 Aug; 81(2):361-6. PubMed ID: 17668384
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
    Kwong AK; Chu VL; Rodenburg RJT; Smeitink J; Fung CW
    Brain Dev; 2019 Nov; 41(10):883-887. PubMed ID: 31324350
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
    Fullston T; Brueton L; Willis T; Philip S; MacPherson L; Finnis M; Gecz J; Morton J
    Eur J Hum Genet; 2010 Feb; 18(2):157-62. PubMed ID: 19738637
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the ARX gene.
    Gong X; Zheng Z; Yang T; Zheng H; Xiao X; Jia N
    Stem Cell Res; 2022 Apr; 60():102693. PubMed ID: 35121198
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
    Ekşioğlu YZ; Pong AW; Takeoka M
    Epilepsia; 2011 May; 52(5):984-92. PubMed ID: 21426321
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
    Marsh E; Fulp C; Gomez E; Nasrallah I; Minarcik J; Sudi J; Christian SL; Mancini G; Labosky P; Dobyns W; Brooks-Kayal A; Golden JA
    Brain; 2009 Jun; 132(Pt 6):1563-76. PubMed ID: 19439424
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
    Moey C; Topper S; Karn M; Johnson AK; Das S; Vidaurre J; Shoubridge C
    Eur J Hum Genet; 2016 May; 24(5):681-9. PubMed ID: 26306640
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Status dystonicus due to missense variant in ARX: Diagnosis and management.
    Gorman KM; Cary H; Gaffney L; Forman E; Waldron D; Al-Delami F; Lynch BJ; King MD; Allen NM
    Eur J Paediatr Neurol; 2018 Sep; 22(5):862-865. PubMed ID: 29778428
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
    Poirier K; Eisermann M; Caubel I; Kaminska A; Peudonnier S; Boddaert N; Saillour Y; Dulac O; Souville I; Beldjord C; Lascelles K; Plouin P; Chelly J; Bahi-Buisson N
    Epilepsy Res; 2008 Aug; 80(2-3):224-8. PubMed ID: 18468866
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
    Sherr EH
    Curr Opin Pediatr; 2003 Dec; 15(6):567-71. PubMed ID: 14631200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.
    Bettella E; Di Rosa G; Polli R; Leonardi E; Tortorella G; Sartori S; Murgia A
    Clin Genet; 2013 Jul; 84(1):82-5. PubMed ID: 23039062
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
    Olivetti PR; Noebels JL
    Curr Opin Neurobiol; 2012 Oct; 22(5):859-65. PubMed ID: 22565167
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial Ohtahara syndrome due to a novel ARX gene mutation.
    Giordano L; Sartori S; Russo S; Accorsi P; Galli J; Tiberti A; Bettella E; Marchi M; Vignoli A; Darra F; Murgia A; Bernardina BD
    Am J Med Genet A; 2010 Dec; 152A(12):3133-7. PubMed ID: 21108397
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
    Shinozaki Y; Osawa M; Sakuma H; Komaki H; Nakagawa E; Sugai K; Sasaki M; Goto Y
    Brain Dev; 2009 Jun; 31(6):469-72. PubMed ID: 18823727
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
    Babkina N; Deignan JL; Lee H; Vilain E; Sankar R; Giurgea I; Mowat D; Graham JM
    Eur J Med Genet; 2016 Feb; 59(2):70-4. PubMed ID: 26721324
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.