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Article

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

BMC pediatrics - 27 Jun 2020

Yang Sai, Shen Xiang, Kang Qingyun, Kuang Xiaojun, Ning Zeshu, Liu Shulei, Liao Hongmei, Cao Zhenhua, Yang Liming

Abstract excerpt

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 cause ACCIID that stands for arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development....

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Identifiers

PMID: 32593294
DOI: 10.1186/s12887-020-02213-7
PMCID: PMC7320544

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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