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

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Standard

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant. / Gjerulfsen, Cathrine E.; Mieszczanek, Tomasz S.; Johannesen, Katrine M.; Liao, Vivian W.Y.; Chebib, Mary; Nørby, Helene A.J.; Gardella, Elena; Rubboli, Guido; Ahring, Philip; Møller, Rikke S.

I: Annals of Clinical and Translational Neurology, Bind 10, Nr. 8, 2023, s. 1493-1498.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Gjerulfsen, CE, Mieszczanek, TS, Johannesen, KM, Liao, VWY, Chebib, M, Nørby, HAJ, Gardella, E, Rubboli, G, Ahring, P & Møller, RS 2023, 'Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant', Annals of Clinical and Translational Neurology, bind 10, nr. 8, s. 1493-1498. https://doi.org/10.1002/acn3.51838

APA

Gjerulfsen, C. E., Mieszczanek, T. S., Johannesen, K. M., Liao, V. W. Y., Chebib, M., Nørby, H. A. J., Gardella, E., Rubboli, G., Ahring, P., & Møller, R. S. (2023). Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant. Annals of Clinical and Translational Neurology, 10(8), 1493-1498. https://doi.org/10.1002/acn3.51838

Vancouver

Gjerulfsen CE, Mieszczanek TS, Johannesen KM, Liao VWY, Chebib M, Nørby HAJ o.a. Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant. Annals of Clinical and Translational Neurology. 2023;10(8):1493-1498. https://doi.org/10.1002/acn3.51838

Author

Gjerulfsen, Cathrine E. ; Mieszczanek, Tomasz S. ; Johannesen, Katrine M. ; Liao, Vivian W.Y. ; Chebib, Mary ; Nørby, Helene A.J. ; Gardella, Elena ; Rubboli, Guido ; Ahring, Philip ; Møller, Rikke S. / Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant. I: Annals of Clinical and Translational Neurology. 2023 ; Bind 10, Nr. 8. s. 1493-1498.

Bibtex

@article{bed1769ecb8c44d6bdf170770ab4aef8,
title = "Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant",
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.",
author = "Gjerulfsen, {Cathrine E.} and Mieszczanek, {Tomasz S.} and Johannesen, {Katrine M.} and Liao, {Vivian W.Y.} and Mary Chebib and N{\o}rby, {Helene A.J.} and Elena Gardella and Guido Rubboli and Philip Ahring and M{\o}ller, {Rikke S.}",
note = "Funding Information: The Australian National Health & Medical Research Council grant APP1185122 (PKA, VWYL, MC) and the Novo Nordisk foundation grant NNF 0058749 (RSM). Publisher Copyright: {\textcopyright} 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2023",
doi = "10.1002/acn3.51838",
language = "English",
volume = "10",
pages = "1493--1498",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "JohnWiley & Sons Ltd",
number = "8",

}

RIS

TY - JOUR

T1 - Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant

AU - Gjerulfsen, Cathrine E.

AU - Mieszczanek, Tomasz S.

AU - Johannesen, Katrine M.

AU - Liao, Vivian W.Y.

AU - Chebib, Mary

AU - Nørby, Helene A.J.

AU - Gardella, Elena

AU - Rubboli, Guido

AU - Ahring, Philip

AU - Møller, Rikke S.

N1 - Funding Information: The Australian National Health & Medical Research Council grant APP1185122 (PKA, VWYL, MC) and the Novo Nordisk foundation grant NNF 0058749 (RSM). Publisher Copyright: © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

U2 - 10.1002/acn3.51838

DO - 10.1002/acn3.51838

M3 - Journal article

C2 - 37434477

AN - SCOPUS:85164785549

VL - 10

SP - 1493

EP - 1498

JO - Annals of Clinical and Translational Neurology

JF - Annals of Clinical and Translational Neurology

SN - 2328-9503

IS - 8

ER -

ID: 386603423