Resources Publications 2024Gene Replacement Therapies for Inherited Disorders of Neurotransmission: Current Progress in Succinic Semialdehyde Dehydrogenase Deficiency. Lee HHC, Tokatly Latzer I, Bertoldi M, Gao G, Pearl PL, Sahin M, Rotenberg A. JIMD. 2024 Apr 6. doi: 10.1002/jimd.12735 2023New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies. Pearl PL, Tokatly Latzer I, Lee HHC, Rotenberg A. Neurology. 2023 Jul 18’101(3):124-133. doi: 10.1212/WNL.0000000000207133. Epub 2023 Mar 6. 2022Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. Lee HHC, McGinty GE, Pearl PL, Rotenberg A. Int J Mol Sci. 2022 Feb 26;23(5)”2606. doi: 10.3390/ijms23052606. 2021Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. Lee HHC, Pearl PL, Rotenberg A. J Child Neurol. 2021 Nov; 36(13-14):1200-1209. doi: 10.1177/0883073821993000. For Investigators NIH Ultra-rare Gene-based Therapy (URGenT) NetworkNIH Genetic and Rare Diseases (GARD Information CenterNational Organization for Rare Disorders (NORD)OrphanetAmerican Society of Gene & Cell Therapy For Patients Epilepsy FoundationCitizen’s United for Research in Epilepsy (CURE)SSADH AssociationSLC6A1 ConnectCure GABA A VariantsRare Disease Day 2024 Undiagnosed Day 2024
