Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL-Reference-Cited by-同舟云学术

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Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL

Published:2021-01 Issue: Volume:84 Page:47-52
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Qian Xiao-hang,Liu Xiao-ying,Zhu Ze-yu,Wang Shi-ge,Song Xiao-xuan,Chen Guang,Wu Jing-ying,Tang Hui-dong,Cao Li

Funder

National Key Research and Development Program of China

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference20 articles.

1. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy;Tran Mau-Them;Genet Med,2019

2. IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures;Ganos;Parkinsonism Relat Disord,2019

3. A novel IRF2BPL truncating variant is associated with endolysosomal storage;Ginevrino;Mol Biol Rep,2020

4. IRF2BPL is associated with neurological phenotypes;Marcogliese;Am J Hum Genet,2018

5. IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus;Prilop;Parkinsonism Relat Disord,2020

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA;Movement Disorders;2024-09-03

2. Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature;European Child & Adolescent Psychiatry;2024-07-20

3. Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues;Frontiers in Neuroscience;2024-06-06

4. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation;Annals of Clinical and Translational Neurology;2024-04-22

5. Nucleotide metabolism, leukodystrophies, and CNS pathology;Journal of Inherited Metabolic Disease;2024-02-29

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