Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and...

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Detalles Bibliográficos
Autores principales: Shibata, Mami, Ishii, Atsushi, Goto, Ayako, Hirose, Shinichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144015/
https://www.ncbi.nlm.nih.gov/pubmed/33262389
http://dx.doi.org/10.1038/s10038-020-00880-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144015/
https://www.ncbi.nlm.nih.gov/pubmed/33262389
http://dx.doi.org/10.1038/s10038-020-00880-z

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