Functional investigation of SLC1A2 variants associated with epilepsy.
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ABSTRACT:
SUBMITTER: Qu Q
PROVIDER: S-EPMC9772344 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
Functional investigation of SLC1A2 variants associated with epilepsy.
Qu Qi Q Zhang Wenlong W Wang Ji J Mai Dongmei D Ren Siqiang S Qu Shaogang S Zhang Yunlong Y
Cell death & disease 20221221 12
Epilepsy is a common neurological disorder and glutamate excitotoxicity plays a key role in epileptic pathogenesis. Astrocytic glutamate transporter GLT-1 is responsible for preventing excitotoxicity via clearing extracellular accumulated glutamate. Previously, three variants (G82R, L85P, and P289R) in SLC1A2 (encoding GLT-1) have been clinically reported to be associated with epilepsy. However, the functional validation and underlying mechanism of these GLT-1 variants in epilepsy remain undeter ...[more]
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