A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure
ABSTRACT Background Developmental epileptic encephalopathy 56 (DEE56) is a monogenic DEE type caused by heterozygous mutations in YWHAG. To our knowledge, fewer than 30 cases of DEE56 have been reported globally, and our understanding of YWHAG's function remains limited. Methods Whole exome seq...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.70079 |
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