A novel GRIN2B variant (p.F1340V) causes a severe neurodevelopmental disorder with refractory epileptic spasms.

Epileptic Disord

Division of Pediatric Neurology and Department of Neurology, University of Maryland Medical Center, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Published: June 2024

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http://dx.doi.org/10.1002/epd2.20210DOI Listing

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