Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2018
|
| Materias: | |
| 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 |