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ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

16 Dec 2023

Abstract excerpt

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. SSADHD leads to impaired GABA metabolism and results in accumulation of GABA and γ-hydroxybutyrate (GHB), which alter neurotransmission and are thought to lead to neurobehavioral symptoms. However, why increased inhibitory neurotransmitters lead to seizures remains...

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PMID: 38110041
DOI: 10.1016/j.nbd.2023.106386

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