Open access
Aug 2026
From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort
The identification of novel variants enhances molecular understanding and facilitates more precise genotype-phenotype correlations, reinforcing the value of comprehensive genomic diagnostics in epilepsy management and demonstrating the clinical utility of gene panels and WES in complex phenotypes.
Renata Szalai, Á. Till, Krisztina Galimurka et al.
· Human Genetics · 0 citations