Characteristics of Developmental and Epileptic Encephalopathy Associated with <i>PACS2</i> p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature

Characteristics of Developmental and Epileptic Encephalopathy Associated with <i>PACS2</i> p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature

Background: Developmental and epileptic encephalopathies (DEE) encompass a group of rare diseases with hereditary and genetic causes as well as acquired causes such as brain injuries or metabolic abnormalities. The phosphofurin acidic cluster sorting protein 2 (PACS2) is a multifunctional protein wi...

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Bibliographic Details
Main Authors: Adina Stoian, Zoltan Bajko, Rodica Bălașa, Sebastian Andone, Mircea Stoian, Ioana Ormenișan, Carmen Muntean, Claudia Bănescu
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Biomolecules
Subjects:
PACS2
brain atrophy
neurological regression
epileptic encephalopathy
developmental and epileptic encephalopathy
Online Access:https://www.mdpi.com/2218-273X/14/3/270

Internet

https://www.mdpi.com/2218-273X/14/3/270

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