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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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| Publié dans: | Cold Spring Harb Mol Case Stud |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Cold Spring Harbor Laboratory Press
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6318765/ https://ncbi.nlm.nih.gov/pubmed/30455226 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002949 |
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