Neurogenetics - Case Report Collection 2021

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CASE REPORT

Published on 16 Jun 2022

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

Fanxin Kong
Haotao Zheng
Xuan Liu
Songjun Lin
Jianjun Wang
Zhouke Guo

doi 10.3389/fneur.2022.813032

1,849 views
2 citations

CASE REPORT

Published on 26 May 2022

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

Shuk Ching Chong
Yuet-Ping Yuen
Ye Cao
Sze-Shing Fan
Tak Yeung Leung
Emily K. Y. Chan
Xian Lun Zhu

doi 10.3389/fneur.2022.853918

2,212 views
2 citations

CASE REPORT

Published on 04 Apr 2022

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Wenyu Liu
Ming Liu
Di Lu
Jiwei Wang
Zexin Cao
Xuchen Liu
Zichao Feng
Bin Huang
Xinyu Wang

doi 10.3389/fneur.2022.795514

2,378 views
3 citations

CASE REPORT

Published on 21 Mar 2022

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature

Yuchao Chen
Xiaodong Lu
Yi Jin
Dan Li
Xiaojun Ye
Chenjuan Tao
Menglu Zhou
Haibo Jiang
Hao Yu

doi 10.3389/fneur.2022.845318

2,070 views
3 citations

CASE REPORT

Published on 11 Feb 2022

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

Aijun Lu
Chunxia Dong
Bihong Chen
Lei Xie
Huaiqiang Hu

doi 10.3389/fneur.2022.807291

2,961 views
12 citations

CASE REPORT

Published on 14 Jan 2022

Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep

Xiaorui Liu
Lingling Xie
Zhixu Fang
Li Jiang

doi 10.3389/fneur.2021.796283

1,771 views
5 citations

CASE REPORT

Published on 06 Dec 2021

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Peter Sparber
Svetlana Mikhaylova
Varvara Galkina
Yulia Itkis
Mikhail Skoblov

doi 10.3389/fneur.2021.761892

1,975 views
2 citations

CASE REPORT

Published on 08 Nov 2021

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series

Zhenchu Tang
Shan Gao
Miao He
Qihua Chen
Jia Fang
Yingying Luo
Weiqian Yan
Xiaoliu Shi
Hui Huang
Jianguang Tang

doi 10.3389/fneur.2021.747360

4,154 views
4 citations

CASE REPORT

Published on 27 Sep 2021

Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders

Jorge Diogo Da Silva
Marta Daniela Costa
Bruno Almeida
Fátima Lopes
Patrícia Maciel
Andreia Teixeira-Castro

doi 10.3389/fneur.2021.735549

6,599 views
12 citations

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