Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
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DOI：
10.1186/s13023-023-02756-9
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发表时间：
2023-08-03
影响因子：
3.7
通讯作者：
Kruer, Michael C.
中科院分区：
文献类型：
--
作者：
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.
关键词：
已知NMDA受体的突变会破坏对早期神经发育至关重要的谷氨酸能信号传导，通常会导致严重的全面发育迟缓/智力残疾、癫痫性脑病和脑瘫表型。癫痫发作和运动障碍都可能是高度难治性的。我们描述了一个有针对性的阿坝N-1鞘内硫酸镁治疗试验，合理设计的基础上，这种增益功能突变的GRIN 1 NMDA亚基的电生理特性。尽管该试验的侵入性需要进行短期、非随机、非盲干预，但定量纵向神经生理学监测显示了获益，提供了支持鞘内硫酸镁治疗特定形式GRIN疾病的II类证据。在线版本包含补充材料，可通过10.1186/s13023-023-02756-9获得。
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. 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. 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. The online version contains supplementary material available at 10.1186/s13023-023-02756-9.
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影响因子：
3.7
作者：
FuchsBuder, T;Tramer, MR;Tassonyi, E
通讯作者：
Tassonyi, E
影响因子：
105.7
作者：
Vohra, Sunita;Shamseer, Larissa;Moher, David
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Moher, David
NMDA受体缺乏症的后果可以在成人大脑中挽救。
影响因子：
11
作者：
Mielnik CA;Binko MA;Chen Y;Funk AJ;Johansson EM;Intson K;Sivananthan N;Islam R;Milenkovic M;Horsfall W;Ross RA;Groc L;Salahpour A;McCullumsmith RE;Tripathy S;Lambe EK;Ramsey AJ
通讯作者：
Ramsey AJ
影响因子：
9.9
作者：
Müller AR;Brands MMMG;van de Ven PM;Roes KCB;Cornel MC;van Karnebeek CDM;Wijburg FA;Daams JG;Boot E;van Eeghen AM
通讯作者：
van Eeghen AM
影响因子：
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作者：
Mercieri, M.;De Blasi, R. A.;Arcioni, R.
通讯作者：
Arcioni, R.