Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review
Background: Type II DNA topoisomerases (EC5.99.1.3) are enzymes that catalyze topological changes during DNA replication and gene transcription in an ATP-dependent manner. Vertebrates have two isoforms: topoisomerase IIα and β. Type II topoisomerase β is encoded by TOP2B. For TOP2B, a number of germ...
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| Main Authors: | , , , , |
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| Format: | Article |
| Sprog: | engelsk |
| Udgivet: |
Frontiers Media S.A.
2025-06-01
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| Serier: | Frontiers in Pediatrics |
| Fag: | |
| Online adgang: | https://www.frontiersin.org/articles/10.3389/fped.2025.1542268/full |
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