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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]
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12. 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]
13. 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]
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16. 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]
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