Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a <scp><i>GABRA1</i></scp> loss‐of‐function variant
Cathrine E. Gjerulfsen, Tomasz Stanislaw Mieszczanek, Katrine M. Johannesen, Vivian W. Y. Liao, Mary Chebib, Helene A. J. Nørby, Elena Gardella, Guido Rubboli, Philip K. Ahring, Rikke S. Møller
Abstract
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 A receptor gene variants.