Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review-Reference-Cited by-同舟云学术

Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review

Published:2017-04-12 Issue: Volume:9 Page:
ISSN:1663-4365
Container-title:Frontiers in Aging Neuroscience
language:
Short-container-title:Front. Aging Neurosci.

Author:

Shen Yan,Liu Xiaoming,Long Xi,Han Chao,Wan Fang,Fan Wenliang,Guo Xingfang,Ma Kai,Guo Shiyi,Wang Luxi,Xia Yun,Liu Ling,Huang Jinsha,Lin Zhicheng,Xiong Nian,Wang Tao

Funder

National Natural Science Foundation of China

Publisher

Frontiers Media SA

Subject

Cognitive Neuroscience,Aging

Reference36 articles.

1. Neuroacanthocytosis–the variability of presenting symptoms in two siblings.;Aasly;Acta Neurol. Scand.,1999

2. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.;Al-Asmi;Epilepsia,2005

3. Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis.;Bader;Mov. Disord.,2010

4. [Chorea-acanthocytosis without acanthocytes].;Bayreuther;Rev. Neurol.,2010

5. Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.;Benninger;Epilepsia,2016

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1. Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc);Molecular Genetics and Genomics;2024-03-22

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3. Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s);Molecular Genetics and Genomics;2023-05-20

4. Acupuncture for treating symptoms associated with chorea-acanthocytosis: A CARE-compliant case report;EXPLORE;2021-11

5. Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A;Frontiers in Neuroscience;2021-02-10