Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Conclusion
These 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.

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., Allen, J., Shaulsky, G., Chelly, J., Marcorelle, P., Aziza, J., Villard, L., Sacaze, E., de Wit, M. C. Y., Wilke, M., M Tags: Genotype-phenotype correlations Source Type: research