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4. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Turner G; Partington M; Kerr B; Mangelsdorf M; Gecz J Am J Med Genet; 2002 Nov; 112(4):405-11. PubMed ID: 12376946 [TBL] [Abstract][Full Text] [Related]
5. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Strømme P; Mangelsdorf ME; Shaw MA; Lower KM; Lewis SM; Bruyere H; Lütcherath V; Gedeon AK; Wallace RH; Scheffer IE; Turner G; Partington M; Frints SG; Fryns JP; Sutherland GR; Mulley JC; Gécz J Nat Genet; 2002 Apr; 30(4):441-5. PubMed ID: 11889467 [TBL] [Abstract][Full Text] [Related]
6. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Nabbout R; Depienne C; Chipaux M; Girard B; Souville I; Trouillard O; Dulac O; Chelly J; Afenjar A; Héron D; Leguern E; Beldjord C; Bienvenu T; Bahi-Buisson N Epilepsy Res; 2009 Nov; 87(1):25-30. PubMed ID: 19734009 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. Rujirabanjerd S; Tongsippunyoo K; Sripo T; Limprasert P Eur J Med Genet; 2007; 50(5):346-54. PubMed ID: 17613295 [TBL] [Abstract][Full Text] [Related]
9. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Guerrini R; Moro F; Kato M; Barkovich AJ; Shiihara T; McShane MA; Hurst J; Loi M; Tohyama J; Norci V; Hayasaka K; Kang UJ; Das S; Dobyns WB Neurology; 2007 Jul; 69(5):427-33. PubMed ID: 17664401 [TBL] [Abstract][Full Text] [Related]
10. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Kalscheuer VM; Tao J; Donnelly A; Hollway G; Schwinger E; Kübart S; Menzel C; Hoeltzenbein M; Tommerup N; Eyre H; Harbord M; Haan E; Sutherland GR; Ropers HH; Gécz J Am J Hum Genet; 2003 Jun; 72(6):1401-11. PubMed ID: 12736870 [TBL] [Abstract][Full Text] [Related]
11. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Hirose S; Mitsudome A Brain Dev; 2003 Apr; 25(3):161-5. PubMed ID: 12689693 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. The phenotypic spectrum of ARX mutations. Suri M Dev Med Child Neurol; 2005 Feb; 47(2):133-7. PubMed ID: 15707237 [TBL] [Abstract][Full Text] [Related]