These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 36495145)

  • 21. The GIRK2 subunit is involved in IS-like seizures induced by GABA(B) receptor agonists.
    Blichowski M; Shephard A; Armstrong J; Shen L; Cortez MA; Eubanks JH; Snead OC
    Epilepsia; 2015 Jul; 56(7):1081-7. PubMed ID: 26032891
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
    Bamborschke D; Pergande M; Daimagüler HS; Mangold E; Dötsch J; Herkenrath P; Cirak S; Fazeli W
    Neuropediatrics; 2019 Dec; 50(6):378-381. PubMed ID: 31319422
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Infantile spasms and Down syndrome: a new animal model.
    Cortez MA; Shen L; Wu Y; Aleem IS; Trepanier CH; Sadeghnia HR; Ashraf A; Kanawaty A; Liu CC; Stewart L; Snead OC
    Pediatr Res; 2009 May; 65(5):499-503. PubMed ID: 19190545
    [TBL] [Abstract][Full Text] [Related]  

  • 25. GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
    Yang Y; Zeng Q; Cheng M; Niu X; Xiangwei W; Gong P; Li W; Ma J; Zhang X; Yang X; Yang Z; Sun D; Zhou S; Liao J; Jiang Y; Zhang Y
    J Neurol; 2022 May; 269(5):2649-2665. PubMed ID: 34698933
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The Epilepsy Surgery Experience in Children With Infantile Epileptic Spasms Syndrome at a Tertiary Care Center in Canada.
    Gettings JV; Shafi S; Boyd J; Snead OC; Rutka J; Drake J; McCoy B; Jain P; Whitney R; Go C
    J Child Neurol; 2023 Mar; 38(3-4):113-120. PubMed ID: 36788207
    [No Abstract]   [Full Text] [Related]  

  • 27. De novo GABRA1 mutations in Ohtahara and West syndromes.
    Kodera H; Ohba C; Kato M; Maeda T; Araki K; Tajima D; Matsuo M; Hino-Fukuyo N; Kohashi K; Ishiyama A; Takeshita S; Motoi H; Kitamura T; Kikuchi A; Tsurusaki Y; Nakashima M; Miyake N; Sasaki M; Kure S; Haginoya K; Saitsu H; Matsumoto N
    Epilepsia; 2016 Apr; 57(4):566-73. PubMed ID: 26918889
    [TBL] [Abstract][Full Text] [Related]  

  • 28. CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.
    Darra F; Monchelato M; Loos M; Juanes M; Bernardina BD; Valenzuela GR; Gallo A; Caraballo R
    Epilepsy Res; 2023 Feb; 190():107098. PubMed ID: 36739728
    [TBL] [Abstract][Full Text] [Related]  

  • 29. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
    Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
    Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
    [TBL] [Abstract][Full Text] [Related]  

  • 30. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.
    DeLorey TM; Olsen RW
    Epilepsy Res; 1999 Sep; 36(2-3):123-32. PubMed ID: 10515160
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Early life seizures and epileptic spasms in STXBP1-related disorders.
    Thalwitzer KM; Xian J; de Campo D; Parthasarathy S; Magielski J; Sullivan KR; Goss J; Rigby CS; Boland M; Prosser B; Ruggiero SM; Syrbe S; Helbig I
    Epilepsia; 2024 Mar; 65(3):805-816. PubMed ID: 38279907
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Altered thalamic GABAA-receptor subunit expression in the stargazer mouse model of absence epilepsy.
    Seo S; Leitch B
    Epilepsia; 2014 Feb; 55(2):224-32. PubMed ID: 24417662
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Long-term analysis of adrenocorticotropic hormone monotherapy for infantile epileptic spasms syndrome with periventricular leukomalacia.
    Matsuura R; Hamano SI; Hirata Y; Takeda R; Takeuchi H; Koichihara R; Kikuchi K; Oka A
    Seizure; 2023 Jul; 109():40-44. PubMed ID: 37207538
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
    Jiang YH; Pan Y; Zhu L; Landa L; Yoo J; Spencer C; Lorenzo I; Brilliant M; Noebels J; Beaudet AL
    PLoS One; 2010 Aug; 5(8):e12278. PubMed ID: 20808828
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [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; 60(12):1317-1321. PubMed ID: 36444437
    [No Abstract]   [Full Text] [Related]  

  • 36. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Yang Y; Xiangwei W; Zhang X; Xiao J; Chen J; Yang X; Jia T; Yang Z; Jiang Y; Zhang Y
    Dev Med Child Neurol; 2020 Oct; 62(10):1213-1220. PubMed ID: 32686847
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Atonic elements combined or uncombined with epileptic spasms in infantile spasms.
    Xue J; Qian P; Li H; Yang H; Liu X; Zhang Y; Yang Z
    Clin Neurophysiol; 2017 Jan; 128(1):220-226. PubMed ID: 27940146
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.