Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology

PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein important for brain development. The protein also seems to regulate gamma-aminobutyric acid type A receptors (GABA(A)(R)). The disease presents with refractory epilepsy that is...

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Detalles Bibliográficos
Autores principales: Moncayo, Juan A, Ayala, Ivan N, Argudo, Jennifer M, Aguirre, Alex S, Parwani, Jashank, Pachano, Ana, Ojeda, Diego, Cordova, Steven, Mora, Maria Gracia, Tapia, Christiany M, Ortiz, Juan Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9271214/
https://www.ncbi.nlm.nih.gov/pubmed/35822151
http://dx.doi.org/10.7759/cureus.25808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9271214/
https://www.ncbi.nlm.nih.gov/pubmed/35822151
http://dx.doi.org/10.7759/cureus.25808

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