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...

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Detalles Bibliográficos
Autores principales: Ruxmohan, Samir, Quinonez, Jonathan, Yadav, Randhir S, Shrestha, Shumneva, Poudel, Sujan, Stein, Joel D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Neurology
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

Internet

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

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