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Article

Variants in BSN gene associated with epilepsy with favourable outcome.

Journal of medical genetics - 1 Aug 2023

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

Abstract excerpt

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 epilepsies of unknown causes. Additional cases with BSN variants were collected from China Epilepsy Gene V.1.0 Matching...

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Identifiers

PMID: 36600631
DOI: 10.1136/jmg-2022-108865
PMCID: PMC10439262

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