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2. 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]
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7. 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]
8. 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]
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10. 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]
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13. 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]
14. Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. Bowser DN; Wagner DA; Czajkowski C; Cromer BA; Parker MW; Wallace RH; Harkin LA; Mulley JC; Marini C; Berkovic SF; Williams DA; Jones MV; Petrou S Proc Natl Acad Sci U S A; 2002 Nov; 99(23):15170-5. PubMed ID: 12415111 [TBL] [Abstract][Full Text] [Related]
15. 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]
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