Dataset Information
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Ontology highlight
ABSTRACT: 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-of-1 treatment trial with intrathecal MgSO4, rationally designed based on the electrophysiologic properties of this gain of function mutation in the GRIN1 NMDA subunit.Conclusion
Although the invasive nature of the trial necessitated a short-term, non-randomized, unblinded intervention, quantitative longitudinal neurophysiologic monitoring indicated benefit, providing class II evidence in support of intrathecal MgSO4 for select forms of GRIN disorders.
SUBMITTER: Lewis SA
PROVIDER: S-EPMC10398931 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
Publications
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Orphanet journal of rare diseases 20230803 1
<h4>Background</h4>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.<h4>Results</h4>We describe a targeted ABA n-of-1 treatment trial with intrathecal MgSO<sub>4</sub>, rationally designed based on the electrophysiologic properties ...[more]
