ArticleNature genetics2013
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 2 of them syntheses that pooled it.
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Who cites it
183 citing papers in PubMed, 2 syntheses or guidelines pooled it, 438 citations in OpenAlex.
- Pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner Syndrome.The Cochrane database of systematic reviews · 2020Pooled it
- Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.BMC genetics · 2018Pooled it
- Single-Dose Memantine Improves Cortical Oscillatory Response Dynamics in Patients with Schizophrenia.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2017Trial
- Molecular Mechanisms of Seizure Gating in Sleep-Related Epilepsy: Genes, Channels, Sleep Stages and Circadian Rhythm.Current issues in molecular biology · 2026Review
- Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: Pathophysiological insights and treatment options.Epilepsia · 2026Review
- Symptomatic hyperprolactinemia mimicking pituitary pathology in a child with Landau-Kleffner syndrome, autism spectrum disorder, and intellectual disability: a case report.Journal of medical case reports · 2026Article
- Molecular Modeling of the Pathogenetic Mechanisms of Neuropsychiatric Disorders.International journal of molecular sciences · 2026Review
- Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.Annals of neurology · 2025Observational
- Do cognitive and neurophysiological effects of acute memantine "challenge" predict its clinical benefits in Alzheimer's Disease?Psychiatry research · 2025Article
- The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.European journal of neurology · 2025Article
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.Epilepsy & behavior : E&B · 2025Article
- Neurodevelopmental disorder due to a frameshift mutation in theTranslational pediatrics · 2025Article
- Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- [Landau-Kleffner Syndrome: Current Etiopathogenesis and Management].Revista de neurologia · 2025Review
- Article
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.medRxiv : the preprint server for health sciences · 2025Article
- Spontaneous spike-and-wave discharges during sleep in mice: circadian distribution and impact on sleep quality.Frontiers in neurology · 2025Article
- Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.Case reports in pediatrics · 2025Article
- Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.Epilepsia open · 2024Article
- Mechanisms of Action Underlying Conductance-Modifying Positive Allosteric Modulators of the NMDA Receptor.Molecular pharmacology · 2024Article
123 more citing papers are in PubMed but not listed here.
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29 authors at 16 institutions in 5 countries.
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Abstract
Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. They show electroclinical overlap with rolandic epilepsy (the most frequent childhood focal epilepsy) and can be viewed as different clinical expressions of a single pathological entity situated at the crossroads of epileptic, speech, language, cognitive and behavioral disorders. Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A). The identification of GRIN2A as a major gene for these epileptic encephalopathies provides crucial insights into the underlying pathophysiology.
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