ArticleBrain & development2011
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Article in Brain & development, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review.International journal of molecular sciences · 2018Pooled it
- Anesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.Case reports in anesthesiology · 2025Article
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolism · 2024Article
- Article
- Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.Frontiers in genetics · 2024Article
- ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.Neurobiology of disease · 2024Article
- 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
- Treatment of γ-Hydroxybutyrate (GHB) Overdose with the GABAThe Journal of pharmacology and experimental therapeutics · 2022Article
- Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.International journal of molecular sciences · 2022Review
- Urinary Neurotransmitter Patterns Are Altered in Canine Epilepsy.Frontiers in veterinary science · 2022Article
- Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.Journal of child neurology · 2021Article
- Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.Metabolic brain disease · 2021Review
- Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.Clinical case reports · 2021Article
- OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report.BMC psychiatry · 2020Article
- Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.JIMD reports · 2020Article
- Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.Journal of inherited metabolic disease · 2018Review
- Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.Neurochemistry international · 2016Review
- Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.Neurology · 2015Article
- Serial plasma metabolites following hypoxic-ischemic encephalopathy in a nonhuman primate model.Developmental neuroscience · 2015Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
objectivesSuccinic semialdehyde dehydrogenase (SSADH) deficiency is a gamma-aminobutyric acid (GABA) degradative defect. Epilepsy affects half of patients. The murine model is associated with a transition from absence to convulsive seizures in the third week, with fatal status epilepticus.
methodsThe clinical phenotype is reported from a patient database. Flumazenil-Positron Emission Topography (FMZ-PET) and Transcranial Magnetic Stimulation (TMS) were used to study GABA neurotransmission. Electrocorticography, single cell electrophysiology, and radioligand binding studies are reported from animal studies.
resultsGeneralized seizures predominate, including tonic-clonic, atypical absence, and myoclonic. EEG discharges are typically generalized spike-wave. MRI shows a dentatopallidoluysian pattern. Sudden Unexpected Death in Epilepsy Patients (SUDEP) has occurred and the associated neuropathology reveals chronic excitotoxic injury in gloubus pallidus. Investigations using FMZ-PET and TMS support downregulation of GABA(A) and GABA(B) activity, respectively, in patients. Gamma-hydroxybutyrate (GHB) induces spike-wave discharges in homozygous null mice via GHB and GABA(B)-mediated mechanisms. These resemble absence seizures and are abolished by a GABA(B) receptor antagonist. Decreased binding of GABA(A) and GABA(B) receptor antagonists has been demonstrated in P19 and P14 null mice, respectively. Downregulation of GABA(A) and GABA(B) receptor subunits is observed by P14. GABA(A) and GABA(B) mediated potentials are reduced from P8-P14.
conclusionGeneralized epilepsy and epileptiform discharges are characteristic of SSADH deficiency. Spontaneous absence seizures appear in null mice by the third week, which may be induced by GHB or GABA(B) activity. Subsequent overuse dependent downregulation of GABA(A) and GABA(B) receptor activity may be associated with hyperexcitability concomitant with the transition to generalized seizures.
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