Tayyaba Afsar, Xiaoyun Huang, Abid Ali Shah, Safdar Abbas, Shazia Bano, Arif Mahmood, Junjian Hu, Suhail Razak, Muhammad Umair
BACKGROUND: Developmental and epileptic encephalopathies (DEEs) signify a group of heterogeneous neurodevelopmental disorder associated with early-onset seizures accompanied by developmental delay, hypotonia, mild to severe intellectual disability, and developmental regression. Variants in the DNM1 gene have been associated with autosomal dominant DEE type 31A and autosomal recessive DEE type 31B. METHODS: In the current study, a consanguineous Pakistani family consisting of a proband (IV-2) was clinically evaluated and genetically analyzed manifesting in severe neurodevelopmental phenotypes...
2023: Frontiers in Pediatrics