Associated Papers
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
41728594 (PubMed )
Supplement: Data_Sheet_1.docx
KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review.
Anastasescu CM et al.
Life (basel, Switzerland), 2025
NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.
Wang L et al.
Translational Pediatrics, 2023
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
Langley E et al.
American Journal of Medical Genetics. Part A, 2022
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
Wu D et al.
American Journal of Medical Genetics. Part A, 2020
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster R et al.
Clinical Genetics, 2017
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