De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014) - Lee, Jae‐Ran
Abstract De novo (genetic changes not transmitted from the parents) missense mutations targeting conserved residues in the motor domain of the neuron‐specific motor protein KIF1A alters its activity and cause a complex neurologic phenotype characterized by severe developmental delay and/or intellectual disability, as well as variable cerebellar atrophy, visual loss, spastic paraparesis, peripheral neuropathy and epilepsy.