Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability
Author:
Affiliation:
1. Department of Neurology, First Affiliated Hospital, School of Medicine, Epilepsy Center Zhejiang University Hangzhou China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61848
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1. Heterozygous Nexmif female mice demonstrate mosaic NEXMIF expression, autism-like behaviors, and abnormalities in dendritic arborization and synaptogenesis;Heliyon;2024-02
2. Infantile spasms caused by NEXMIF mutation: A case report and literature review;Applied Neuropsychology: Child;2023-06-14
3. NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report;Translational Pediatrics;2023-06
4. Epilepsy and Other Phenotypic Features of X-Linked Intellectual Disability Due to Mutations in the KIAA2022 Gene;Neuroscience and Behavioral Physiology;2023-06
5. Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2022
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