Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report

BACKGROUND: PPP3CA gene encodes the catalytic subunit A of a calcium-dependent protein phosphatase called calcineurin. However, two distinct mechanisms in PPP3CA deficiency would cause two clinically different diseases. Gain-of-function mutations in the autoinhibitory domain at the C-terminus would...

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Detalles Bibliográficos
Autores principales: Yang, Sai, Shen, Xiang, Kang, Qingyun, Kuang, Xiaojun, Ning, Zeshu, Liu, Shulei, Liao, Hongmei, Cao, Zhenhua, Yang, Liming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320544/
https://www.ncbi.nlm.nih.gov/pubmed/32593294
http://dx.doi.org/10.1186/s12887-020-02213-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320544/
https://www.ncbi.nlm.nih.gov/pubmed/32593294
http://dx.doi.org/10.1186/s12887-020-02213-7

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