A Child with Global Developmental Delay and Seizures with Variants of Uncertain Significance on Whole Exome Sequencing

Author(s)	Dr. Agrata Aggarwal, Dr. Siddharth Narain, Dr. (Prof) Saksham Srivastava, Dr. Honey Dhingra
Country	India
Abstract	Global developmental delay (GDD) and early-onset seizures are common presentations in pediatric neurology with heterogeneous etiologies. Advances in genomic testing, particularly whole exome sequencing (WES), have improved diagnostic yield, though variants of uncertain significance (VUS) remain a challenge in clinical interpretation. We report a one-year-old female child with global developmental delay and seizures, clinically suspected to have quadriplegic cerebral palsy, in whom WES revealed heterozygous variants of uncertain significance in SMARCE1 and NALCN genes, with no pathogenic copy number or mitochondrial DNA variants detected.
Keywords	Global developmental delay, gene sequencing, infantile seizures, SMARCE 1 mutation, NALCN gene, HIE
Field	Medical / Pharmacy
Published In	Volume 7, Issue 6, November-December 2025
Published On	2025-12-31
DOI	https://doi.org/10.36948/ijfmr.2025.v07i06.65273

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