In Vivo Expression of an SCA27A-linked FGF14 Mutation Results in Haploinsufficiency and Impaired Firing of Cerebellar Purkinje Neurons
Joseph L. Ransdell, Samuel P. Brown, Maolei Xiao…·Jeanne M. Nerbonne
This study shows that a mutation in FGF14 causes haploinsufficiency and impairs Purkinje neuron firing, leading to motor and cognitive deficits in mice.