R. H. Jadah

Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report

X-linked lissencephaly spectrum disorder is a rare neurodevelopmental condition resulting from pathogenic variants that disrupt normal neuronal migration, with doublecortin (DCX) being one of the genes most frequently implicated. Similarly, pathogenic variants of the p21-activated kinase 3 (PAK3) gene are associated wi...