Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation

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 rar...

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Detalles Bibliográficos
Autores principales: Qian, Yanyan, Wu, Bingbing, Lu, Yulan, Dong, Xinran, Qin, Qian, Zhou, Wenhao, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318765/
https://www.ncbi.nlm.nih.gov/pubmed/30455226
http://dx.doi.org/10.1101/mcs.a002949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318765/
https://www.ncbi.nlm.nih.gov/pubmed/30455226
http://dx.doi.org/10.1101/mcs.a002949

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