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A Report of a Child with SEC31A-Related Neurodevelopmental Disorder

Ruqaiah AlTassan1,2, Hanan AlQudairy3, Biam Saydo2,3

  • 1Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

International Journal of Molecular Sciences
|June 13, 2025
PubMed
Summary

SEC31A gene variants cause Halperin-Birk syndrome, a severe neurodevelopmental disorder characterized by profound developmental delay and seizures. This study identified a new patient and confirmed the link between SEC31A mutations and this rare condition.

Keywords:
COPIISEC31Acorpus callosum hypogenesisneurodevelopmental disorderseizure disorder

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