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

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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Main Authors: Sai Yang (Author), Xiang Shen (Author), Qingyun Kang (Author), Xiaojun Kuang (Author), Zeshu Ning (Author), Shulei Liu (Author), Hongmei Liao (Author), Zhenhua Cao (Author), Liming Yang (Author)
Format: Book
Published: BMC, 2020-06-01T00:00:00Z.
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