Journal article
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants
Daisy GY Thompson-Lake, Frederique J Liegeois, Ruth O Braden, Graeme D Jackson, Samantha J Turner, Lottie Morison, Michael Hildebrand, Ingrid E Scheffer, Angela T Morgan
Neurology: Genetics | Wolters Kluwer | Published : 2024
Abstract
Background and Objectives: Pathogenic variants in GRIN2A are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown. Specifically, altered brain networks at the root of speech and language deficits remain to be identified. Patients with pathogenic variants in GRIN2A offer an opportunity to interrogate the impact of glutamate receptor dysfunction on brain development. Methods: We characterized brain anomalies in individuals with pathogenic GRIN2A variants and ..
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Grants
Awarded by National Institute on Handicapped Research
Funding Acknowledgements
This study was supported by the National Health and Medical Research Council Centre of Research Excellence (1116976),Project Grant (1127144), and Investigator Grant (1195955)to A.T.M. A.T.M. is supported by the Victorian Government'sOperational Infrastructure Support Program and AustralianGovernment National Health and Medical Research CouncilIndependent Research Institute Infrastructure SupportScheme (NHMRC IRIISS). All research at Great OrmondStreet Hospital NHS Foundation Trust and UCL GreatOrmond Street Institute of Child Health (F.J.L., D.G.Y.T-L.)is made possible by the NIHR Great Ormond Street HospitalBiomedical Research Centre. The views expressed are thoseof the authors and not necessarily those of the NHS, theNIHR, or the Department of Health.