De Novo Mutations in Patients with Ataxic CP

Abstract

As a part of a large study investigating childhood ataxias in the UK and Switzerland, Schnekenberg et al. analyzed the genetic associations with congenital cerebellar ataxia in 10 patients using either a targeted next generation sequencing panel of 118 genes or trio-based exome sequencing.

Keywords

• cerebral palsy
• ataxia
• genetics