Variants in BSN gene associated with epilepsy with favourable outcome

BACKGROUND: BSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. This study aims to explore the relationship between BSN variants and epilepsy. METHODS: Whole-exome sequencing was performed in a cohort of 313 cases (trios) with epi...

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Detalles Bibliográficos
Autores principales: Ye, Tingting, Zhang, Jiwei, Wang, Jie, Lan, Song, Zeng, Tao, Wang, Huaili, He, Xuelian, Li, Bing-Mei, Deng, Weiwen, Liao, Wei-Ping, Liu, Xiao-Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439262/
https://www.ncbi.nlm.nih.gov/pubmed/36600631
http://dx.doi.org/10.1136/jmg-2022-108865

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439262/
https://www.ncbi.nlm.nih.gov/pubmed/36600631
http://dx.doi.org/10.1136/jmg-2022-108865

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