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

• 主要な著者: Sai Yang (著者), Xiang Shen (著者), Qingyun Kang (著者), Xiaojun Kuang (著者), Zeshu Ning (著者), Shulei Liu (著者), Hongmei Liao (著者), Zhenhua Cao (著者), Liming Yang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...