Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report
Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), i...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2024-11-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X241302964 |
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