Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders-Reference-Cited by-同舟云学术

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Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders

Published:2023-10 Issue: Volume:111 Page:172-177
ISSN:1059-1311
Container-title:Seizure: European Journal of Epilepsy
language:en
Short-container-title:Seizure: European Journal of Epilepsy

Author:

Jin Liang,Li Yun,Luo Sheng,Peng Qian,Zhai Qiong-Xiang,Zhai Jin-Xia,Gao Liang-Di,Guo Jia-Jun,Song Wang,Yi Yong-Hong,He Na,Chen Yong-Jun

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference15 articles.

1. Loss-of-function mutation in APC2 causes Sotos syndrome features [J];Almuriekhi;Cell Rep,2015

2. APC2 plays an essential role in axonal projections through the regulation of microtubule stability [J];Shintani;J Neurosci,2009

3. Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2 [J];Shintani;J Neurosci,2012

4. Bi-allelic loss of human APC2, encoding adenomatous polyposis coli protein 2, leads to lissencephaly, subcortical heterotopia, and global developmental delay [J];Lee;Am J Hum Genet,2019

5. Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene [J];Mastrangelo;Seizure,2020

Cited by 2 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. DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation;Frontiers in Molecular Neuroscience;2024-01-05

2. Epilepsy-associated genes: an update;Seizure: European Journal of Epilepsy;2023-09

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