Zhanel Z. Mirmanova

WHOLE-EXOME SEQUENCING OF MONOZYGOTIC TWINS WITH EPILEPSY AND AUTISM SPECTRUM DISORDER IN A KAZAKHSTANI FAMILY: A CASE REPORT

Epilepsy and autism spectrum disorder (ASD) frequently co-occur and share complex genetic determinants. However, molecular diagnosis remains challenging because of incomplete penetrance, variable expressivity, and the limited representation of Central Asian populations in genomic...