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

Autor:	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
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1493-1498 (2023)
Druh dokumentu:	article
ISSN:	2328-9503
DOI:	10.1002/acn3.51838
Popis:	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.
Databáze:	Directory of Open Access Journals
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