BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 29961870)

  • 21. Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
    Lin SXN; Ahring PK; Keramidas A; Liao VWY; Møller RS; Chebib M; Absalom NL
    Brain; 2024 Jan; 147(1):224-239. PubMed ID: 37647766
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.
    Chen W; Ge Y; Lu J; Melo J; So YW; Juneja R; Liu L; Wang YT
    Int J Mol Sci; 2022 Mar; 23(5):. PubMed ID: 35269865
    [TBL] [Abstract][Full Text] [Related]  

  • 23. An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.
    Hou SJ; Tsai SJ; Kuo PH; Lin WY; Liu YL; Yang AC; Lin E; Lan TH
    BMC Med Genomics; 2021 Sep; 14(1):223. PubMed ID: 34530807
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic variations in GABA metabolism and epilepsy.
    Feng Y; Wei ZH; Liu C; Li GY; Qiao XZ; Gan YJ; Zhang CC; Deng YC
    Seizure; 2022 Oct; 101():22-29. PubMed ID: 35850019
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
    Ahring PK; Liao VWY; Gardella E; Johannesen KM; Krey I; Selmer KK; Stadheim BF; Davis H; Peinhardt C; Koko M; Coorg RK; Syrbe S; Bertsche A; Santiago-Sim T; Diemer T; Fenger CD; Platzer K; Eichler EE; Lerche H; Lemke JR; Chebib M; Møller RS
    Brain; 2022 May; 145(4):1299-1309. PubMed ID: 34633442
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Gabra2 is a genetic modifier of Dravet syndrome in mice.
    Hawkins NA; Nomura T; Duarte S; Barse L; Williams RW; Homanics GE; Mulligan MK; Contractor A; Kearney JA
    Mamm Genome; 2021 Oct; 32(5):350-363. PubMed ID: 34086081
    [TBL] [Abstract][Full Text] [Related]  

  • 28.
    Hernandez CC; Shen Y; Hu N; Shen W; Narayanan V; Ramsey K; He W; Zou L; Macdonald RL
    Biomolecules; 2023 Feb; 13(3):. PubMed ID: 36979350
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
    Bai YF; Chiu M; Chan ES; Axerio-Cilies P; Lu J; Huh L; Connolly MB; Guella I; Farrer MJ; Xu ZD; Liu L; Demos M; Wang YT
    Mol Brain; 2019 Nov; 12(1):92. PubMed ID: 31707987
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes.
    Guipponi M; Thomas P; Girard-Reydet C; Feingold J; Baldy-Moulinier M; Malafosse A
    Am J Med Genet; 1997 Apr; 74(2):150-3. PubMed ID: 9129713
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A
    Ishii A; Kang JQ; Schornak CC; Hernandez CC; Shen W; Watkins JC; Macdonald RL; Hirose S
    J Med Genet; 2017 Mar; 54(3):202-211. PubMed ID: 27789573
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
    Vogel FD; Krenn M; Westphal DS; Graf E; Wagner M; Leiz S; Koniuszewski F; Augé-Stock M; Kramer G; Scholze P; Ernst M
    Epilepsia; 2022 Apr; 63(4):e35-e41. PubMed ID: 35152403
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular and clinical descriptions of patients with GABA
    Maillard PY; Baer S; Schaefer É; Desnous B; Villeneuve N; Lépine A; Fabre A; Lacoste C; El Chehadeh S; Piton A; Porter LF; Perriard C; Wardé MA; Spitz MA; Laugel V; Lesca G; Putoux A; Ville D; Mignot C; Héron D; Nabbout R; Barcia G; Rio M; Roubertie A; Meyer P; Paquis-Flucklinger V; Patat O; Lefranc J; Gerard M; ; de Bellescize J; Villard L; De Saint Martin A; Milh M
    Epilepsia; 2022 Oct; 63(10):2519-2533. PubMed ID: 35718920
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.
    Zhang Y; Lian Y; Xie N
    Medicine (Baltimore); 2017 Dec; 96(50):e9273. PubMed ID: 29390378
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.
    Krampfl K; Maljevic S; Cossette P; Ziegler E; Rouleau GA; Lerche H; Bufler J
    Eur J Neurosci; 2005 Jul; 22(1):10-20. PubMed ID: 16029191
    [TBL] [Abstract][Full Text] [Related]  

  • 36. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
    Ogiwara I; Ito K; Sawaishi Y; Osaka H; Mazaki E; Inoue I; Montal M; Hashikawa T; Shike T; Fujiwara T; Inoue Y; Kaneda M; Yamakawa K
    Neurology; 2009 Sep; 73(13):1046-53. PubMed ID: 19786696
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
    Kang JQ; Macdonald RL
    JAMA Neurol; 2016 Aug; 73(8):1009-16. PubMed ID: 27367160
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
    Pavone P; Pappalardo XG; Marino SD; Sciuto L; Corsello G; Ruggieri M; Parano E; Piccione M; Falsaperla R
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1461. PubMed ID: 32945607
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.