Research

  Our biggest dream is that a cure will be found for XLID98.  With recent advances in gene therapies, we believe that this dream can be realized. Please help fund us to find a cure.

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Why the XLID98 Foundation is building the XLID98 International Data Registry?

It is our hope that the International XLID98 Data Registry of symptoms and treatments will bring greater understanding to the many waysXLID98 forever changes the lives of individuals, while setting the stage for the development of treatments and bringing us closer to the dream of finding a cure for this condition.

 We believe that having a database that specifically focuses on this condition, that is owned by ‘The XLID98 Foundation’, allows us to target specific questions and areas of importance specific to our population.  We are not limited by a questions developed for a different purpose that may not pertain to this condition and have the freedom to address issues as we learn more about how this condition is expressed among different individuals.  It is our intention to work with other organizations in the exploration of the information collected in this unique data registry.

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TheXLID98 International Data Registry will be launched in the spring of 2025.  There will be a link to the registry added to this site and posted to the Facebook page.

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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