The GABRG2 F343L allele causes spontaneous seizures in a novel transgenic zebrafish model that can be treated with suberanilohydroxamic acid (SAHA)

BACKGROUND: Mutations in the γ-aminobutyric acid type A (GABA(A)) receptor γ2 subunit gene, GABRG2, have been associated frequently with epilepsy syndromes with varying severities. Recently, a de novo GABRG2 mutation, c.T1027C, p.F343L, was identified in a patient with an early onset epileptic encep...

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Detalles Bibliográficos
Autores principales: Shen, Dingding, Chen, Juan, Liu, Dong, Shen, Mi, Wang, Xin, Wu, Youjia, Ke, Shuan, Macdonald, Robert L., Zhang, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7791267/
https://www.ncbi.nlm.nih.gov/pubmed/33437759
http://dx.doi.org/10.21037/atm-20-3745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7791267/
https://www.ncbi.nlm.nih.gov/pubmed/33437759
http://dx.doi.org/10.21037/atm-20-3745

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