Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine |
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| Authors: | Henry H. C. Lee Gabrielle E. McGinty Phillip L. Pearl Alexander Rotenberg |
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| Affiliation: | 1.F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA 02115, USA; (G.E.M.); (A.R.);2.Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Boston, MA 02115, USA;3.Division of Epilepsy & Clinical Neurophysiology, Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA; |
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| Abstract: | |
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| Keywords: | succinic semialdehyde dehydrogenase deficiency (SSADHD), ALDH5A1, γ -aminobutyric acid (GABA), γ -hydroxybutyrate (GHB), epilepsy, inhibition, GABA receptors, plasticity, mouse model, gene therapy, enzyme replacement therapy |
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