期刊
METABOLIC BRAIN DISEASE
卷 38, 期 1, 页码 1-16出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s11011-022-01091-5
关键词
SLC1A2; EAAT2; Developmental and epileptic encephalopathy 41; Epilepsy; Neurological disorders; Genetic
This review focuses on the role of EAAT2 in epilepsy and other neurological disorders, and provides an overview of the therapeutic modulation of this protein.
Glutamate is the major excitatory neurotransmitter in the central nervous system (CNS). Excitatory amino acid transporters (EAATs) have important roles in the uptake of glutamate and termination of glutamatergic transmission. Up to now, five EAAT isoforms (EAAT1-5) have been identified in mammals. The main focus of this review is EAAT2. This protein has an important role in the pathoetiology of epilepsy. De novo dominant mutations, as well as inherited recessive mutation in this gene, have been associated with epilepsy. Moreover, dysregulation of this protein is implicated in a range of neurological diseases, namely amyotrophic lateral sclerosis, alzheimer's disease, parkinson's disease, schizophrenia, epilepsy, and autism. In this review, we summarize the role of EAAT2 in epilepsy and other neurological disorders, then provide an overview of the therapeutic modulation of this protein.
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