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长春西汀改善了具有 GABRA1 功能丧失变异的患者的神经精神和癫痫结局。

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant.

机构信息

Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.

Department of Child Neurology, Danish Epilepsy Centre, Dianalund, Denmark.

出版信息

Ann Clin Transl Neurol. 2023 Aug;10(8):1493-1498. doi: 10.1002/acn3.51838. Epub 2023 Jul 11.

DOI:10.1002/acn3.51838
PMID:37434477
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10424645/
Abstract

Vinpocetine is a synthetic derivative of the alkaloid vincamine and has been used as a dietary supplement for decades. Following a positive report of the use of vinpocetine in a patient with a loss-of-function GABRB3 variant, we here describe another patient with a loss-of-function GABRA1 variant (p.(Arg112Gln)) who benefited from vinpocetine treatment. This patient was diagnosed with autism spectrum disorder, psychiatric complications, and therapy-resistant focal epilepsy. Upon add-on treatment with 40 mg vinpocetine daily for 16 months, the patient experienced an overall improved quality of life as well as seizure freedom. Our findings corroborate that vinpocetine can attenuate epilepsy-associated behavioral issues in patients with loss-of-function GABA receptor gene variants.

摘要

长春西汀是长春胺的一种合成衍生物，已作为膳食补充剂使用了数十年。在一篇关于长春西汀治疗失活功能 GABRB3 变异患者的积极报告之后，我们在此描述了另一位失活功能 GABRA1 变异（p.（Arg112Gln））患者接受长春西汀治疗后受益的病例。该患者被诊断患有自闭症谱系障碍、精神并发症和抗治疗性局灶性癫痫。在接受 40mg 长春西汀每日添加治疗 16 个月后，患者的生活质量得到了整体改善，且无癫痫发作。我们的研究结果证实，长春西汀可以减轻 GABA 受体基因突变患者癫痫相关行为问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/751c/10424645/5416650e45ca/ACN3-10-1493-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/751c/10424645/5416650e45ca/ACN3-10-1493-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/751c/10424645/5416650e45ca/ACN3-10-1493-g001.jpg

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