The Human Neurogenetics team has discovered a new genetic cause for Aicardi syndrome, also called early myoclonic epilepsy, the most severe form of newborn epilepsy.
The genetic analysis of several affected families has revealed, in one of them, an homozygous variant in the UBA5 gene (ubiquitin-like modifier activating enzyme 5). That gene encodes a protein involved in an ubiquitin-like post-traductional pathway, known to be important for neurological functions in several organisms, from C. elegans to mouse and humans. Although UBA5 mutations have already been described in patients with epilepsy, the MMG findings document the most severe form.
Functional studies performed in collaboration with a german team allowed the MMG researcher to demonstrate that the Aicardi syndrome mutation severely impairs the activity of the UBA5 protein (10% of activity compared to controls). Link to the publication.