Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
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United States: John Wiley & Sons, Inc
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English
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Publisher
United States: John Wiley & Sons, Inc
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Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothesized. In a boy with drug‐resistant epilepsy, FCD, and a germline DEPDC5 pathogenic variant, we show that a s...
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Full title
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
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TN_cdi_doaj_primary_oai_doaj_org_article_9a324a5ce8934bbc85b57f18d8559bdd
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9a324a5ce8934bbc85b57f18d8559bdd
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ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.50815
