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Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-04-28 , DOI: 10.1002/mgg3.1264
Xiao Neng 1 , Mao Xiao 2, 3, 4 , Chen Yuanlu 5 , Li Qinyan 6 , Shu Li 2, 3, 4 , Song Zhanyi 7
Affiliation  

Benign childhood epilepsy with centrotemporal spikes (BECTS) or benign rolandic epilepsy is the most common epileptic syndrome in school‐age children. Genetics is an important factor in BECTS pathogenesis, and <10 genes were associated with BECTS. This study aimed to identify novel genetic causes of BECTS.

中文翻译:

CHRNA4中的新型变异,具有儿童期良性癫痫病,中央颞叶尖峰和对精确医学的贡献。

良性儿童癫痫伴中央颞尖峰(BECTS)或良性罗兰性癫痫是学龄儿童最常见的癫痫综合征。遗传学是BECTS发病机理中的重要因素,并且<10个基因与BECTS相关。这项研究旨在确定BECTS的新型遗传原因。
更新日期:2020-07-06
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