ArticleAnnals of neurology2019
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Article in Annals of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Solute carrier membrane transporters: emerging targets in CNS disorders.Nature reviews. Drug discovery · 2026Review
- Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility.The Journal of clinical investigation · 2026Article
- Tau Ablation Rewires Brain Cell Programs in Health and Restores Function in Disease.bioRxiv : the preprint server for biology · 2026Article
- Tcf4 Deficiency causes recurrent seizures in mice.Progress in neurobiology · 2025Article
- The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.EBioMedicine · 2025Article
- Depressed glutamate transporter 1 expression in a mouse model of Dravet syndrome.Annals of clinical and translational neurology · 2023Article
- Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.Annals of clinical and translational neurology · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Article
- Functional investigation of SLC1A2 variants associated with epilepsy.Cell death & disease · 2022Article
- Molecular Basis of Coupled Transport and Anion Conduction in Excitatory Amino Acid Transporters.Neurochemical research · 2022Review
- Article
- Solute carrier transporter disease and developmental and epileptic encephalopathy.Frontiers in neurology · 2022Review
- Role of glutamate excitotoxicity and glutamate transporter EAAT2 in epilepsy: Opportunities for novel therapeutics development.Biochemical pharmacology · 2021Review
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- Structural Aspects of Photopharmacology: Insight into the Binding of Photoswitchable and Photocaged Inhibitors to the Glutamate Transporter Homologue.Journal of the American Chemical Society · 2021Article
- Neurobiology, Functions, and Relevance of Excitatory Amino Acid Transporters (EAATs) to Treatment of Refractory Epilepsy.CNS drugs · 2020Review
- The solute carrier transporters and the brain: Physiological and pharmacological implications.Asian journal of pharmaceutical sciences · 2020Review
- A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.Epilepsy currents · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
SLC1A2 is a trimeric transporter essential for clearing glutamate from neuronal synapses. Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism. We demonstrate that all 3 variants implicated in this condition localize to the trimerization domain of SLC1A2, and that the Leu85Pro variant acts via a dominant negative mechanism to reduce, but not eliminate, wild-type SLC1A2 protein localization and function. Finally, we demonstrate that treatment of a 20-month-old SLC1A2-related epilepsy patient with the SLC1A2-modulating agent ceftriaxone did not result in a significant change in daily spasm count. ANN NEUROL 2019;85:921-926.
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