Article
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
American journal of medical genetics. Part A - 1 Mar 2025
Gracie Sara, Deshpande Prasannakumar, Hollos Patrik, De Dios Karl, Martin Donna M, Pritchard Amanda B, Scott Schwoerer Jessica A, Behrmann Meghan R, Seaver Laurie H, Brown Kathleen, Fernandez Raymond J, Larson Austin, Coffey Eleanor
Abstract excerpt
Heterozygous de novo loss of function variants in the motor domain of KIF5C are associated with a neurodevelopmental disorder characterized by infantile-onset epilepsy, frontal cortical dysplasia, and developmental delays including motor and speech impairments. Previously, only three missense variants in KIF5C were known to be pathogenic. We identified an additional six patients with significant developmental...
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