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Refractory Epilepsy in a Toddler With PPP2R1A Gene Mutation and Congenital Hydrocephalus
Protein phosphatase 2A (PP2A) is a serine-threonine phosphatase that controls a variety of cellular functions. The PPP2R1A gene is present on chromosome 19 (19q13.41). Its mutation can interrupt B56δ-dependent dephosphorylation where B56δ is greatly expressed in the neural tissues. We present a case...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715662/ https://www.ncbi.nlm.nih.gov/pubmed/34984142 http://dx.doi.org/10.7759/cureus.19988 |