De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review
Author:
Affiliation:
1. Department of Pediatrics Qilu Hospital Cheeloo College of Medicine Shandong University Jinan China
2. Department of Pediatric Neurology and Endocrinology the Affiliated Hospital of Qingdao University Qingdao China
Publisher
Wiley
Subject
Developmental Biology,Developmental Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10115
Reference23 articles.
1. De novo mutations in epileptic encephalopathies
2. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
3. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
4. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients
5. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
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3. HNRNPU's multi‐tasking is essential for proper cortical development;BioEssays;2023-07-13
4. Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature;American Journal of Medical Genetics Part A;2022-02-09
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