Child Neurology: TRAPPC4-Related Neurodevelopmental Disorder.
case_report · Level V
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- Record sourced from PubMed, PMID 40173375.
- Also identified by DOI 10.1212/WNL.0000000000213538.
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Abstract
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, first described in 2020, is associated with autosomal recessive inheritance of pathogenic variant in the <i>TRAPPC4</i> gene. Given a relatively high carrier frequency, it is crucial to recognize and consider this diagnosis. We report 2 sisters with pathogenic homozygous variants (c.454+3A>G) in the <i>TRAPPC4</i> gene, diagnosed after an extensive and time-consuming clinical investigation. This report reviews the phenotypic spectrum of TRAPPC4-related neurodevelopmental disorder, particularly homozygous pathogenic variant c.454+3A>G in <i>TRAPPC4</i>, to raise awareness of this diagnosis.
Medical subject headings
- Neurodevelopmental Disorders