Article

Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation

2022-10-21

Abstract excerpt

<title>Abstract</title> <p>Background Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes. Both seizures and movement disorders can be highly treatment-refractory. Results We describe a targeted ABA n = 1 patient trial wit...

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Literature Corpus work: b01ed5fc-61fe-5daa-a23e-e72130ec2660
DOI: 10.21203/rs.3.rs-1875665/v1

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