Article
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Orphanet journal of rare diseases - 3 Aug 2023
Lewis Sara A, Shetty Sheetal, Gamble Sean, Heim Jennifer, Zhao Ningning, Stitt Gideon, Pankratz Matthew, Mangum Tara, Marku Iris, Rosenberg Robert B, Wilfong Angus A, Fahey Michael C, Kim Sukhan, Myers Scott J, Appavu Brian, Kruer Michael C
Abstract excerpt
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,...
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