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Article

A Case Report and a Review of TRAPPC4-Related TRAPPopathy.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Aug 2026

Kumar Anil, Kumar Ajay, Wander Arvinder, Munshi Anjana

Abstract excerpt

Neurodevelopmental disorder with spasticity, epilepsy and brain atrophy (NEDESBA) is a rare autosomal recessive condition, first described in 2020. It has been associated with biallelic pathogenic variants in the Trafficking Protein Particle Complex Subunit 4 (TRAPPC4) gene. This disorder belongs to the expanding group of TRAPPopathies, caused by mutations in genes encoding components of the transport protein...

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Identifiers

PMID: 42543852
DOI: 10.1002/jdn.70167
PMCID: PMC13430136

Genes

TRAPPC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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