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

Author:

Gjerulfsen Cathrine E.1ORCID,Mieszczanek Tomasz S.2,Johannesen Katrine M.13ORCID,Liao Vivian W. Y.4,Chebib Mary4ORCID,Nørby Helene A. J.5,Gardella Elena16ORCID,Rubboli Guido17ORCID,Ahring Philip4,Møller Rikke S.16ORCID

Affiliation:

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

2. Department of Child Neurology Danish Epilepsy Centre Dianalund Denmark

3. Department of Genetics University Hospital of Copenhagen, Rigshospitalet Copenhagen Denmark

4. Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health The University of Sydney Sydney New South Wales Australia

5. Department of Neuropsychology Danish Epilepsy Centre Dianalund Denmark

6. Department of Regional Health Research, Faculty of Health Sciences University of Southern Denmark Odense Denmark

7. Institute of Clinical Medicine University of Copenhagen Copenhagen Denmark

Abstract

AbstractVinpocetine 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.

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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