Research

Medical research is important  to understand the biology of the most concerned protein called NEXMIF or KIAA2022.

Multiple research projects (current and planned) are being led by Dr. Jagdeep Walia, medical geneticist and full Professor in the Division of Medical Genetics, Department of Pediatrics, Queen's University that includes Natural history delineation, gene expression, transcriptomics and development of gene based therapeutics for XLID98.  

Many other researchers will be involved for more projects in future and the site will be updated with time.

Collaborators are invited to contact Dr. Walia at Jagdeep.Walia (at) kingstonhsc.ca for the same or different projects.

Library of existing research on XLID98

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity
Role of Nexmif Gene in Neuronal Development
NEXMIF Encephalopathy
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability
Farach et al 2016 American Journal of Medical Genetics Part A kiaa2022
De novo Loss of Function Mutations in KIAA2022 Associated with Epilepsy
Clinical spectrum of KIAA2022 pathogenic variants in males
Article on Japanese Boys
Article on Females
Article on Females and Epilepsy
A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders