ReviewCurrent neurology and neuroscience reports2015
New genes for focal epilepsies with speech and language disorders.
Review in Current neurology and neuroscience reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 70 citations in OpenAlex.
- Diagnostic Challenges and Consideration of Landau-Kleffner Syndrome as a Differential Diagnosis for Language Disorders: A Case Report.Clinical case reports · 2025Article
- [Landau-Kleffner Syndrome: Current Etiopathogenesis and Management].Revista de neurologia · 2025Review
- Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.Case reports in pediatrics · 2025Article
- Continuous Spike-Waves during Slow Sleep Today: An Update.Children (Basel, Switzerland) · 2024Review
- Article
- Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.Molecular psychiatry · 2023Article
- Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A.Communications biology · 2022Article
- Clinical Forms andFrontiers in pediatrics · 2020Article
- Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders.Clinical linguistics & phonetics · 2019Article
- GWAS reveals loci associated with velopharyngeal dysfunction.Scientific reports · 2018Article
- Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.Clinical case reports · 2018Article
- Language Dysfunction in Pediatric Epilepsy.The Journal of pediatrics · 2018Review
- Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders.Scientific reports · 2017Article
- The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability.Journal of epilepsy research · 2017Review
- Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Scientific reports · 2017Article
- Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects.Molecular syndromology · 2016Review
- Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability.NeuroImage. Clinical · 2016Article
- Understanding Neuropsychiatric Diseases, Analyzing the Peptide Sharing between Infectious Agents and the Language-Associated NMDA 2A Protein.Frontiers in psychiatry · 2016Review
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The last 2 years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-D-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20% of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.