Literature DB >> 32521964

[Pediatric stress-induced epileptic ataxia syndrome caused by ADPRHL2 gene variation].

M T Xu1, F Fang1, P Holger2, Z M Liu1, X T Ren1, J W Li1, W X Feng1, J S Zeng3, L J He4.   

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Year:  2020        PMID： 32521964     DOI： 10.3760/cma.j.cn112140-20190926-00616

Source DB:  PubMed          Journal:  Zhonghua Er Ke Za Zhi        ISSN： 0578-1310


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  2 in total

1.  Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report.

Authors:  Jiehui Ma; Qiaoqiao Qian; Shuang Yan; Haoyu Dou; Cheng Li; Dan Sun
Journal:  Front Genet       Date:  2022-05-19       Impact factor: 4.772

2.  Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2.

Authors:  Aijun Lu; Chunxia Dong; Bihong Chen; Lei Xie; Huaiqiang Hu
Journal:  Front Neurol       Date:  2022-02-11       Impact factor: 4.003
  2 in total

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