ArticleJournal of medical genetics2023
Overlapping cortical malformations in patients with pathogenic variants in
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- The Role of Disulfide Bonds in the GluN1 Subunit in the Early Trafficking and Functional Properties of GluN1/GluN2 and GluN1/GluN3 NMDA Receptors.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.Orphanet journal of rare diseases · 2025Article
- Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.Frontiers in pediatrics · 2025Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.Cellular and molecular life sciences : CMLS · 2024Article
- GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.Epilepsia · 2023Article
Corrections and comments
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Authors and funding
29 authors at 17 institutions in 8 countries.
Funding
Abstract
backgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in
methodsWe report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in
resultsHeterozygous variants in
conclusionThese findings expand our understanding of the clinical and imaging features of the 'NMDARopathy' spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients.
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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.