New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic enceph...
New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy
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Publisher
Switzerland: Frontiers Media S.A
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Language
English
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Publisher
Switzerland: Frontiers Media S.A
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Contents
To explore the genotypic spectrum and refine the genotype-phenotype correlation of
-related developmental and epileptic encephalopathy (DEE).
whole-exome sequencing or whole-genome sequencing was performed to all patients. Clinical data of 15 epilepsy patients in current study and 21 epilepsy patients from published studies were collected and...
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Full title
New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_69ac95a2eab745c89ba94d613d3f3e95
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_69ac95a2eab745c89ba94d613d3f3e95
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ISSN
1662-453X,1662-4548
E-ISSN
1662-453X
DOI
10.3389/fnins.2025.1570997
