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

Abstract 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-terminu...

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Autores principales: Sai Yang, Xiang Shen, Qingyun Kang, Xiaojun Kuang, Zeshu Ning, Shulei Liu, Hongmei Liao, Zhenhua Cao, Liming Yang
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2020-06-01
Colección:BMC Pediatrics
Materias:
PPP3CA
IECEE1
seizure
Video-EEG
Case report
Acceso en línea:http://link.springer.com/article/10.1186/s12887-020-02213-7
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