Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy

• Main Authors: Tayyaba Afsar (Author), Xiaoyun Huang (Author), Abid Ali Shah (Author), Safdar Abbas (Author), Shazia Bano (Author), Arif Mahmood (Author), Junjian Hu (Author), Suhail Razak (Author), Muhammad Umair (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundDevelopmental 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 ge...