Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Khemika K SudnawaWenxing LiSean CalamiaCara H KannerJennifer M BainAliaa H AbdelhakimAlexa GeltzeilerCaroline M MebaneFrank A ProvenzanoTristan T SandsRobert J FeeJacqueline MontesYufeng ShenWendy K ChungPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2024)
In-person assessment confirmed caregiver report and identified additional visual deficits. Adaptive function declined over time consistent with both the neurodevelopmental and neurodegenerative nature of the condition. Using ESM score assists in predicting phenotype across a wide range of unique variants.