Article
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder.
Clinical genetics - 1 Feb 2026
Sudnawa Khemika K, Geltzeiler Alexa, Kanner Cara H, Zreibe Kyle, Pini Nicolò, Tam Celia, Fee Robert J, Calamia Sean, Callejo Emily, Sharples Holli, Serianni Catherine E, Fagiolini Michela, Hanson Ellen, Montes Jacqueline, Levin April, Chung Wendy K
Abstract excerpt
Mitogen-activated protein kinase 8-interacting protein 3-related neurodevelopmental disorder (MAPK8IP3-related NDD) results from heterozygous pathogenic or likely pathogenic variants in MAPK8IP3. We report on 32 individuals (median age 7.5 years, range 1.3-22.0), all of whom had heterozygous pathogenic/likely pathogenic MAPK8IP3 variants, including missense (62.5%) and predicted loss-of-function (LOF) variants...
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