期刊
ANNALS OF NEUROLOGY
卷 85, 期 6, 页码 921-926出版社
WILEY
DOI: 10.1002/ana.25477
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资金
- Swiss National Science Foundation [31003A_156376]
- Marie Curie Actions International Fellowship Program TransCure
- NIH T32 grant [GM007748]
- NIH [NS066019, MH104318]
- Swiss National Science Foundation (SNF) [31003A_156376] Funding Source: Swiss National Science Foundation (SNF)
SLC1A2 is a trimeric transporter essential for clearing glutamate from neuronal synapses. Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism. We demonstrate that all 3 variants implicated in this condition localize to the trimerization domain of SLC1A2, and that the Leu85Pro variant acts via a dominant negative mechanism to reduce, but not eliminate, wild-type SLC1A2 protein localization and function. Finally, we demonstrate that treatment of a 20-month-old SLC1A2-related epilepsy patient with the SLC1A2-modulating agent ceftriaxone did not result in a significant change in daily spasm count. ANN NEUROL 2019;85:921-926.
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