ArticleAmerican journal of human genetics2017
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Article
- Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.Orphanet journal of rare diseases · 2025Article
- Identification of intragenic variants in pediatric patients with intellectual disability in Peru.BMC medical genomics · 2025Article
- Article
- The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.EBioMedicine · 2025Article
- When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy.Cureus · 2025Article
- A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure.Molecular genetics & genomic medicine · 2025Article
- Role of the YWHAG gene mutations in Developmental and Epileptic Encephalopathy.Frontiers in neuroscience · 2025Review
- 11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?Molecular cytogenetics · 2024Article
- Article
- Functional investigation of SLC1A2 variants associated with epilepsy.Cell death & disease · 2022Article
- SARS-CoV-2 mitochondriopathy in COVID-19 pneumonia exacerbates hypoxemia.Redox biology · 2022Article
- A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.BMC medical genomics · 2022Article
- Structural insights into inhibitory mechanism of human excitatory amino acid transporter EAAT2.Nature communications · 2022Article
- Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain : a journal of neurology · 2022Article
- Molecular Basis of Coupled Transport and Anion Conduction in Excitatory Amino Acid Transporters.Neurochemical research · 2022Review
- Article
- Role of glutamate excitotoxicity and glutamate transporter EAAT2 in epilepsy: Opportunities for novel therapeutics development.Biochemical pharmacology · 2021Review
- Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
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18 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2. Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations.
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