A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

Variants in γ‐aminobutyric acid A (GABA(A)) receptor genes cause different forms of epilepsy and neurodevelopmental disorders. To date, GABRA4, encoding the α4‐subunit, has not been associated with a monogenic condition. However, preclinical evidence points toward seizure susceptibility. Here, we re...

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Detalles Bibliográficos
Autores principales: Vogel, Florian D., Krenn, Martin, Westphal, Dominik S., Graf, Elisabeth, Wagner, Matias, Leiz, Steffen, Koniuszewski, Filip, Augé‐Stock, Maximilian, Kramer, Georg, Scholze, Petra, Ernst, Margot
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304230/
https://www.ncbi.nlm.nih.gov/pubmed/35152403
http://dx.doi.org/10.1111/epi.17188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304230/
https://www.ncbi.nlm.nih.gov/pubmed/35152403
http://dx.doi.org/10.1111/epi.17188

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