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

Italian journal of pediatrics - 27 Sept 2024

Papuc Sorina-Mihaela, Glangher Adelina, Erbescu Alina, Arsene Oana Tarta, Arghir Aurora, Budisteanu Magdalena

Abstract excerpt

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 protein-truncating variants of CCDC88A have been considered responsible for progressive encephalopathy with edema,...

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Brain Edema
Epilepsy
Infant
Microfilament Proteins
Neurodegenerative Diseases

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Spasms, Infantile

Vesicular Transport Proteins

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PMID: 39334473
DOI: 10.1186/s13052-024-01766-y
PMCID: PMC11437638

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