STX1B基因杂合缺失致全面性癫痫伴热性惊厥附加症一家系遗传及临床分析

姜燕丽, 邵新华, 邬振飞, 闫露露, 解敏, 庄丹燕, 李海波

Genetic and clinical characterization of a generalized epilepsy with febrile seizures plus family caused by heterozygous deletion of the STX1B gene

JIANG Yanli, SHAO Xinhua, WU Zhenfei, YAN Lulu, XIE Min, ZHUANG Danyan, LI Haibo

临床儿科杂志 . 2025, (8): 628 -634 . DOI: 10.12372/jcp.2025.24e1096