ReviewJournal of inherited metabolic disease2009
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
Review in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
50 citing papers in PubMed, 114 citations in OpenAlex.
- A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.Journal of child neurology · 2021Trial
- Causal interhemispheric neuromodulation sharpens synaptic and neurobehavioral inhibition in stroke.Brain communications · 2026Article
- Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.International journal of molecular sciences · 2024Article
- Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2024Article
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.Journal of inherited metabolic disease · 2024Review
- Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.Frontiers in genetics · 2024Article
- Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies.Molecular genetics and metabolism · 2023Review
- Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.Balkan journal of medical genetics : BJMG · 2023Article
- Article
- Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.Brain communications · 2023Article
- Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.Journal of child neurology · 2021Article
- Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.Journal of child neurology · 2021Article
- Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.Journal of child neurology · 2021Article
- γ-Hydroxybutyric Acid: Pharmacokinetics, Pharmacodynamics, and Toxicology.The AAPS journal · 2021Review
- NovelNeurology · 2020Article
- A Missense Variant inGenes · 2020Article
- OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report.BMC psychiatry · 2020Article
- Review
- Pinellia Total Alkaloids Modulate the GABAergic System in Hippocampal Formation on Pilocarpine-Induced Epileptic Rats.Chinese journal of integrative medicine · 2020Article
- Novel mutations in two unrelated Italian patients with SSADH deficiency.Metabolic brain disease · 2019Article
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 4 countries.
Funding
Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder of GABA degradation with subsequent elevations in brain GABA and GHB, is a neurometabolic disorder with intellectual disability, epilepsy, hypotonia, ataxia, sleep disorders, and psychiatric disturbances. Neuroimaging reveals increased T2-weighted MRI signal usually affecting the globus pallidus, cerebellar dentate nucleus, and subthalamic nucleus, and often cerebral and cerebellar atrophy. EEG abnormalities are usually generalized spike-wave, consistent with a predilection for generalized epilepsy. The murine phenotype is characterized by failure-to-thrive, progressive ataxia, and a transition from generalized absence to tonic-clonic to ultimately fatal convulsive status epilepticus. Binding and electrophysiological studies demonstrate use-dependent downregulation of GABA(A) and (B) receptors in the mutant mouse. Translational human studies similarly reveal downregulation of GABAergic activity in patients, utilizing flumazenil-PET and transcranial magnetic stimulation for GABA(A) and (B) activity, respectively. Sleep studies reveal decreased stage REM with prolonged REM latencies and diminished percentage of stage REM. An ad libitum ketogenic diet was reported as effective in the mouse model, with unclear applicability to the human condition. Acute application of SGS-742, a GABA(B) antagonist, leads to improvement in epileptiform activity on electrocorticography. Promising mouse data using compounds available for clinical use, including taurine and SGS-742, form the framework for human trials.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.