269 related articles for article (PubMed ID: 29961870)
1. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler KM; Moody OA; Schuler E; Coryell J; Alexander JJ; Jenkins A; Escayg A
Brain; 2018 Aug; 141(8):2392-2405. PubMed ID: 29961870
[TBL] [Abstract][Full Text] [Related]
2. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Hernandez CC; XiangWei W; Hu N; Shen D; Shen W; Lagrange AH; Zhang Y; Dai L; Ding C; Sun Z; Hu J; Zhu H; Jiang Y; Macdonald RL
Brain; 2019 Jul; 142(7):1938-1954. PubMed ID: 31056671
[TBL] [Abstract][Full Text] [Related]
3. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
[TBL] [Abstract][Full Text] [Related]
4. A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.
Boonsimma P; Suwannachote S; Phokaew C; Ittiwut C; Suphapeetiporn K; Shotelersuk V
Brain Dev; 2020 Aug; 42(7):546-550. PubMed ID: 32249079
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Shi YW; Zhang Q; Cai K; Poliquin S; Shen W; Winters N; Yi YH; Wang J; Hu N; Macdonald RL; Liao WP; Kang JQ
Brain; 2019 Oct; 142(10):3028-3044. PubMed ID: 31435640
[TBL] [Abstract][Full Text] [Related]
7. A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Steudle F; Rehman S; Bampali K; Simeone X; Rona Z; Hauser E; Schmidt WM; Scholze P; Ernst M
Sci Rep; 2020 Feb; 10(1):2379. PubMed ID: 32047208
[TBL] [Abstract][Full Text] [Related]
8. Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Sanchis-Juan A; Hasenahuer MA; Baker JA; McTague A; Barwick K; Kurian MA; Duarte ST; ; Carss KJ; Thornton J; Raymond FL
Mol Genet Genomic Med; 2020 Jul; 8(7):e1106. PubMed ID: 32347641
[TBL] [Abstract][Full Text] [Related]
9. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS; Wuttke TV; Helbig I; Marini C; Johannesen KM; Brilstra EH; Vaher U; Borggraefe I; Talvik I; Talvik T; Kluger G; Francois LL; Lesca G; de Bellescize J; Blichfeldt S; Chatron N; Holert N; Jacobs J; Swinkels M; Betzler C; Syrbe S; Nikanorova M; Myers CT; Larsen LH; Vejzovic S; Pendziwiat M; von Spiczak S; Hopkins S; Dubbs H; Mang Y; Mukhin K; Holthausen H; van Gassen KL; Dahl HA; Tommerup N; Mefford HC; Rubboli G; Guerrini R; Lemke JR; Lerche H; Muhle H; Maljevic S
Neurology; 2017 Jan; 88(5):483-492. PubMed ID: 28053010
[TBL] [Abstract][Full Text] [Related]
10. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein N; Goldberg-Stern H; Straussberg R; Bazak L; Weisz Hubshman M; Kropach N; Gilad O; Scheuerman O; Dory Y; Kraus D; Tzur S; Magal N; Kilim Y; Shkalim Zemer V; Basel-Salmon L
Eur J Paediatr Neurol; 2018 May; 22(3):516-524. PubMed ID: 29422393
[TBL] [Abstract][Full Text] [Related]
11. De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
[TBL] [Abstract][Full Text] [Related]
12. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Papandreou A; McTague A; Trump N; Ambegaonkar G; Ngoh A; Meyer E; Scott RH; Kurian MA
Dev Med Child Neurol; 2016 Apr; 58(4):416-20. PubMed ID: 26645412
[TBL] [Abstract][Full Text] [Related]
13. A mutation in GABRB3 associated with Dravet syndrome.
Le SV; Le PHT; Le TKV; Kieu Huynh TT; Hang Do TT
Am J Med Genet A; 2017 Aug; 173(8):2126-2131. PubMed ID: 28544625
[TBL] [Abstract][Full Text] [Related]
14. Altered Channel Conductance States and Gating of GABA
Hernandez CC; Kong W; Hu N; Zhang Y; Shen W; Jackson L; Liu X; Jiang Y; Macdonald RL
eNeuro; 2017; 4(1):. PubMed ID: 28197552
[TBL] [Abstract][Full Text] [Related]
15. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Platzer K; Sticht H; Bupp C; Ganapathi M; Pereira EM; Le Guyader G; Bilan F; Henderson LB; Lemke JR; Taschenberger H; Brose N; Abou Jamra R; Wojcik SM
Ann Neurol; 2022 Dec; 92(6):958-973. PubMed ID: 36073542
[TBL] [Abstract][Full Text] [Related]
16. A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S; Cohen J; Pevsner J; Aradhya S; McKnight D; Butler E; Johnston M; Fatemi A
Am J Med Genet A; 2014 Nov; 164A(11):2914-21. PubMed ID: 25124326
[TBL] [Abstract][Full Text] [Related]
17. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
Hawkins NA; Zachwieja NJ; Miller AR; Anderson LL; Kearney JA
PLoS Genet; 2016 Oct; 12(10):e1006398. PubMed ID: 27768696
[TBL] [Abstract][Full Text] [Related]
18. 4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2
Shen W; Flamm C; Delahanty AJ; Casteel E; Biven M; DeLeeuw MB; Poliquin S; Nwosu G; Randhave K; Kang JQ
Epilepsia; 2024 Jan; 65(1):204-217. PubMed ID: 37746768
[TBL] [Abstract][Full Text] [Related]
19. De novo CLPTM1 variants with reduced GABA
Liu N; Li J; Gao K; Perszyk RE; Zhang J; Wang J; Wu Y; Jenkins A; Yuan H; Traynelis SF; Jiang Y
Epilepsia; 2023 Nov; 64(11):2968-2981. PubMed ID: 37577761
[TBL] [Abstract][Full Text] [Related]
20. Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.
Yu W; Hill SF; Xenakis JG; Pardo-Manuel de Villena F; Wagnon JL; Meisler MH
Epilepsia; 2020 Dec; 61(12):2847-2856. PubMed ID: 33140451
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]