Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Background: The seizure threshold 2 (<i>SZT2</i>) gene encodes a protein of unknown function, which is widely expressed, confers a low seizure threshold, and enhances epileptogenesis. It also comprises the KICSTOR protein complex, which inhibits the mTORC1 pathway. A pathogenic variant i...
| Published in: | Biomedicines |
|---|---|
| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-08-01
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| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9059/11/9/2402 |