Unveiling a de novo variant: Clinical progression and management challenges in a case of development...
Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report
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SAGE Publishing
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Language
English
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SAGE Publishing
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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), illustrating the diagnostic and treatment challenge...
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Full title
Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report
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TN_cdi_doaj_primary_oai_doaj_org_article_fd1d83a9336a40fdb91cf16847752cd3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fd1d83a9336a40fdb91cf16847752cd3
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E-ISSN
2050-313X
DOI
10.1177/2050313X241302964
