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Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424645/ https://www.ncbi.nlm.nih.gov/pubmed/37434477 http://dx.doi.org/10.1002/acn3.51838 |
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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. |
author_facet | 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. |
author_sort | Gjerulfsen, Cathrine E. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10424645 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-104246452023-08-15 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. Ann Clin Transl Neurol Case Study 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. John Wiley and Sons Inc. 2023-07-11 /pmc/articles/PMC10424645/ /pubmed/37434477 http://dx.doi.org/10.1002/acn3.51838 Text en © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Study 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 |
title | Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a
GABRA1
loss‐of‐function variant |
title_full | Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a
GABRA1
loss‐of‐function variant |
title_fullStr | Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a
GABRA1
loss‐of‐function variant |
title_full_unstemmed | Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a
GABRA1
loss‐of‐function variant |
title_short | Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a
GABRA1
loss‐of‐function variant |
title_sort | vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a
gabra1
loss‐of‐function variant |
topic | Case Study |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424645/ https://www.ncbi.nlm.nih.gov/pubmed/37434477 http://dx.doi.org/10.1002/acn3.51838 |
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