Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features

A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene (KCTD3) [c.1192C>T; p.R398*] was identified in a patient with developmental epileptic encephalopathy with distinctive features and brain structural abnormalities. The patient showed isodisomy of...

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Detalles Bibliográficos
Autores principales: Shimojima Yamamoto, Keiko, Yoshimura, Ayumi, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406933/
https://www.ncbi.nlm.nih.gov/pubmed/37550298
http://dx.doi.org/10.1038/s41439-023-00250-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406933/
https://www.ncbi.nlm.nih.gov/pubmed/37550298
http://dx.doi.org/10.1038/s41439-023-00250-z

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