A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants

• Hoofdauteurs: Sorina-Mihaela Papuc (Auteur), Adelina Glangher (Auteur), Alina Erbescu (Auteur), Oana Tarta Arsene (Auteur), Aurora Arghir (Auteur), Magdalena Budisteanu (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2024-09-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently associated with a specific form of epileptic encephalopathy. Biallelic...