Rare gelastic seizure associated with <i>ATP6V0A2</i> gene variants in a patient with <scp>ARCLII</scp>-Reference-Cited by-同舟云学术

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Rare gelastic seizure associated with ATP6V0A2 gene variants in a patient with ARCLII

Published:2024-07-02 Issue:4 Volume:26 Page:530-532
ISSN:1294-9361
Container-title:Epileptic Disorders
language:en
Short-container-title:Epileptic Disorders

Author:

Zhang Xuan¹^ORCID,Lu Hongjuan¹^ORCID,Sun Wei¹

Affiliation:

1. Department of Neurology, Xuanwu Hospital Capital Medical University Beijing China

Abstract

Content available: Video

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epd2.20228

Reference6 articles.

1. Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

2. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

3. Defective protein glycosylation in patients with cutis laxa syndrome

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