Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation
- 1Children's Hospital of Fudan University, The Translational Medicine Center of Children Development and Disease of Fudan University, Key Laboratory of Birth Defects, Shanghai 201102, China;
- 2Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China
- Corresponding authors: huijunwang{at}fudan.edu.cn; zhouwenhao{at}fudan.edu.cn
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↵3 These authors contributed equally to this work.
Abstract
Epileptic encephalopathies are severe seizure disorders accompanied by intellectual disability. Whole-exome sequencing technology has enabled the discovery of genetic mutations responsible for a wide range of diseases, and severe epilepsy and neurodevelopmental diseases are often associated with rare de novo mutations. We identified a novel de novo frameshift mutation in the PPP3CA gene encoding calcium-dependent protein phosphatase (calcineurin) catalytic subunit A (c.1255_1256del, p.Ser419Cysfs*31) in an 11.5-mo-old female with early-onset refractory epilepsy and developmental delay. This finding expands the list of PPP3CA mutations associated with early-onset severe neurodevelopmental disease with seizures and provides further details on clinical features.
- absence seizures with eyelid myoclonia
- moderate global developmental delay
- myoclonic atonic seizures
Footnotes
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[Supplemental material is available for this article.]
- Received February 26, 2018.
- Accepted August 14, 2018.
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