Publications by authors named "Rehan Sheikh"
Article Synopsis
- * The study focuses on 48 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that affect the M3 transmembrane helix, identified in children with conditions like epilepsy and developmental delays.
- * Most of these variants lead to a gain-of-function effect, promoting NMDAR channel activity, reinforcing the importance of the M3 region in receptor function, and providing insights into how certain drugs may affect these variant receptors.
The short pre-M1 helix within the S1-M1 linker (also referred to as the pre-M1 linker) between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the NMDA receptor (NMDAR) is devoid of missense variants within the healthy population but is a locus for de novo pathogenic variants associated with neurological disorders. Several de novo variants within this helix have been identified in patients presenting early in life with intellectual disability, developmental delay, and/or epilepsy. In this study, we evaluated functional properties for twenty variants within the pre-M1 linker in GRIN1, GRIN2A, and GRIN2B genes, including six novel missense variants.
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