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MeSH:(Seizures/genetics*)

2.A case of 16p13.11 microdeletion syndrome with febrile convulsion as the main manifestation.

Ting WU ; Li'na LIAO ; Xiaoping JIANG ; Jianrong LIU ; Wangyang CHEN ; Min SHENG ; Ning GUO

Chinese Journal of Medical Genetics 2021;38(10):981-984

3.STXBP1 gene mutation in newborns with refractory seizures.

Li-Li LIU ; Xin-Lin HOU ; Cong-Le ZHOU ; Ze-Zhong TANG ; Xin-Hua BAO ; Yi JIANG

Chinese Journal of Contemporary Pediatrics 2014;16(7):701-704

4.Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.

Chong-Yuan LAI ; Rui-Hua CHEN ; Chun-Lan ZHONG ; Ming-Ming JI ; Bing-Fei LI

Chinese Journal of Contemporary Pediatrics 2022;24(5):585-590

5.De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report.

Jia ZHANG ; Yang LI ; Huan LUO ; YaJun SHEN ; Meng YUAN ; Zuozhen YANG ; Jing GAN

Chinese Journal of Medical Genetics 2022;39(5):484-487

6.New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases.

Mi CAO ; Chao LIU ; Zihan WEI ; Xiaozhi QIAO ; Yanchun DENG

Chinese Journal of Medical Genetics 2021;38(7):626-630

7.Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures.

Shaoxia SUN ; Xiaoling LI ; Jiguo SONG ; Yufen LI ; Liyun XU ; Bing XIA ; Ying HUA ; Liping ZHU ; Junlin WANG

Chinese Journal of Medical Genetics 2021;38(8):745-748

8.Early identification and diagnosis of epilepsy related to fever sensitivity.

Yu-Xin XU ; Jian-Min ZHONG

Chinese Journal of Contemporary Pediatrics 2021;23(7):749-754

9.A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature.

Fan WU ; Xin Na JI ; Meng Xiao SHEN ; Yan Yan GAO ; Ping Ping ZHANG ; Shu Pin LI ; Qian CHEN

Chinese Journal of Pediatrics 2023;61(8):726-730

10.Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.

Yulan CHEN ; Dianfu CHEN ; Shaoyun ZHAO ; Gonglu LIU ; Hongfu LI ; Zhi-Ying WU

Frontiers of Medicine 2021;15(6):877-886

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