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Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA) catabolism. Despite the resultant hyper‐GABAergic environment facilitated by the metabolic defect, individuals… Click to show full abstract
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA) catabolism. Despite the resultant hyper‐GABAergic environment facilitated by the metabolic defect, individuals with this disorder have a paradoxically high prevalence of epilepsy. We aimed to study the characteristics of epilepsy in SSADHD and its concordance with GABA‐related metabolites and neurophysiologic markers of cortical excitation.
Journal Title: Epilepsia
Year Published: 2023
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