Edition of 20 April 2018

The authors reported that mutations in VPS15 were associated with cortical atrophy and epilepsy in humans. They networked with clinical geneticists through interfaces such as Genematcher. This resulted in the identification of a family with non-consanguineous parents in which one of four children presented with severe cortical and optic nerve atrophy, localised cortical dysplasia, intellectual impairment, spasticity, ataxia, psychomotor delay, muscle wasting, pseudobulbar palsy, a mild hearing deficit and late-onset epilepsy. Whole-exome sequencing (WES) of all family identified a single homozygous coding variant in VPS15.