Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA

We described a child who is compound heterozygous for two novel variants in theMOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG.

http://rd.springer.com/10.1007/s10048-024-00754-y

Source: Neurogenetics - March 18, 2024 Category: Genetics & Stem Cells Source Type: research