Article
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2024
Sudnawa Khemika K, Li Wenxing, Calamia Sean, Kanner Cara H, Bain Jennifer M, Abdelhakim Aliaa H, Geltzeiler Alexa, Mebane Caroline M, Provenzano Frank A, Sands Tristan T, Fee Robert J, Montes Jacqueline, Shen Yufeng, Chung Wendy K
Abstract excerpt
PURPOSE: Pathogenic variants in kinesin family member 1A (KIF1A) are associated with KIF1A-associated neurological disorder. We report the clinical phenotypes and correlate genotypes of individuals with KIF1A-associated neurological disorder. METHODS: Medical history and adaptive function were assessed longitudinally. In-person evaluations included neurological, motor, ophthalmologic, and cognitive assessments....
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