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

Cathrine E Gjerulfsen, Tomasz S Mieszczanek, Katrine M Johannesen, Vivian W Y Liao, Mary Chebib, Helene A J Nørby, Elena Gardella, Guido Rubboli, Philip Ahring, Rikke S Møller*

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftArtikelForskningpeer review

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 GABAA receptor gene variants.

OriginalsprogEngelsk
Sider (fra-til)1493-1498
Antal sider6
TidsskriftAnnals of Clinical and Translational Neurology
Vol/bind10
Udgave nummer8
DOI
StatusUdgivet - aug. 2023

Bibliografisk note

© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

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