Associated Papers
Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders.
Wang X et al.
Neurobiology of Disease, 2025
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
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation.
Banerjee S et al.
Medcomm, 2024
KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
Li W et al.
Pediatric Research, 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
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
Somatic mutations in cerebral cortical malformations.
Jamuar SS et al.
The New England Journal of Medicine, 2014
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