Associated Papers
A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
Perrone B et al.
International Journal of Molecular Sciences, 2025
41373679 (PubMed )
Supplement: ijms-26-11521-s001.zip › ijms-3917049-supplementary.pdf
Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).
Ghodsinezhad V et al.
Molecular Genetics and Genomics : Mgg, 2024
Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage.
Wang M et al.
Frontiers in Neurology, 2024
Two case reports of chorea-acanthocytosis and review of literature.
Huang S et al.
European Journal of Medical Research, 2022
Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.
Luo FM et al.
Frontiers in Neuroscience, 2021
Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.
Walker S et al.
Neurology. Genetics, 2018
Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode.
Yi F et al.
Frontiers in Neurology, 2018
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation.
Weber J et al.
Frontiers in Neurology, 2018
Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.
Shen Y et al.
Frontiers in Aging Neuroscience, 2017
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
Benninger F et al.
Epilepsia, 2016
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
Tomiyasu A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
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