Associated Papers
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.
Kovermann P et al.
Ebiomedicine, 2025
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
Chen J et al.
Journal of Human Genetics, 2023
The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.
Alijanpour S et al.
Metabolic Brain Disease, 2023
Functional investigation of SLC1A2 variants associated with epilepsy.
Qu Q et al.
Cell Death & Disease, 2022
Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
Kovermann P et al.
Epilepsia, 2022
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Rahman MM et al.
Journal of Epilepsy Research, 2021
Critical amino acids in the TM2 of EAAT2 are essential for membrane-bound localization, substrate binding, transporter function and anion currents.
Mai D et al.
Journal of Cellular and Molecular Medicine, 2021
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Stergachis AB et al.
Annals of Neurology, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I et al.
American Journal of Human Genetics, 2017
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Unknown Author
American Journal of Human Genetics, 2016
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