In a manuscript now published in Nature Genetics, we identify a neurodevelopmental disorder associated with variations in the UNC13A gene. UNC13A is essential for synaptic transmission and plasticity, and a key genetic risk factor associated for ALS and FTD.
www.nature.com/articles/s41...
nature.com
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function - Nature Genetics
Pathogenic variants in UNC13A underlie a novel neurodevelopmental syndrome, with three subtypes defined by distinct genotypes with varying clinical and functional impacts characterized in cellular and...
