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Rare Manifestation of ATP1A3 Mutation with Clinical Response to Cannabidiol.

作者信息

Hamza Ashique, Sureshbabu Sachin, Krishnadas N C, Narayanan Poornima, Pillai Deep P, Samuel Nikhil

机构信息

Department of Neurology, The Center of Excellence in Neuroscience, Meitra Hospital, Calicut, Kerala, India.

Department of General Medicine, Osmania Medical College, Hyderabad, Telangana, India.

出版信息

Ann Indian Acad Neurol. 2024 Sep 1;27(5):588-589. doi: 10.4103/aian.aian_276_24. Epub 2024 Oct 17.

DOI:10.4103/aian.aian_276_24
PMID:39445896
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11575882/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/349b/11575882/f44ec2c24d71/AIAN-27-588-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/349b/11575882/f44ec2c24d71/AIAN-27-588-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/349b/11575882/f44ec2c24d71/AIAN-27-588-g001.jpg

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本文引用的文献

1
The role of gene in epilepsy: We need to know more.基因在癫痫中的作用：我们需要了解更多。
Front Cell Neurosci. 2023 Feb 13;17:1143956. doi: 10.3389/fncel.2023.1143956. eCollection 2023.
2
The Phenotypic Continuum of -Related Disorders.- 相关障碍的表型连续统。
Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18.
3
ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.与ATP1A3相关的儿童早期起病的发育性和癫痫性脑病对胼胝体切开术有反应：一例报告。
Brain Dev. 2023 Jan;45(1):77-81. doi: 10.1016/j.braindev.2022.08.009. Epub 2022 Sep 14.
4
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.ATP1A2 和 ATP1A3 相关的早发性重度癫痫性脑病伴巨脑回畸形。
Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052.
5
De novo ATP1A3 variants cause polymicrogyria.新发ATP1A3变异导致多小脑回畸形。
Sci Adv. 2021 Mar 24;7(13). doi: 10.1126/sciadv.abd2368. Print 2021 Mar.
6
Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report.氟桂利嗪对ATP1A3基因p.E815K突变的儿童交替性偏瘫患者的疗效：一例报告
Case Rep Neurol. 2020 Sep 18;12(3):299-306. doi: 10.1159/000509287. eCollection 2020 Sep-Dec.
7
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.钠钾ATP酶α3基因（ATP1A3）的突变与快速进展性肌张力障碍帕金森综合征相关。
Neuron. 2004 Jul 22;43(2):169-75. doi: 10.1016/j.neuron.2004.06.028.