Associated Papers
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
Gracie S et al.
American Journal of Medical Genetics. Part A, 2025
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 2024
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
Banerjee S et al.
Medcomm, 2024
Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients.
Adams JM et al.
Frontiers in Molecular Biosciences, 2024
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
UNC-116 and UNC-16 function with the NEKL-3 kinase to promote axon targeting.
Drozd CJ et al.
Development (cambridge, England), 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
Naim A et al.
European Journal of Medical Genetics, 2022
KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
Li W et al.
Pediatric Research, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
Kinesin-1-mediated axonal transport of CB1 receptors is required for cannabinoid-dependent axonal growth and guidance.
Saez TMM et al.
Development (cambridge, England), 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
Michels S et al.
American Journal of Medical Genetics. Part A, 2017
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
Cavallin M et al.
Neurogenetics, 2016
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
Willemsen MH et al.
Journal of Medical Genetics, 2014