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MeSH:(Spasms, Infantile/genetics*)

2.Clinical manifestation and genetic analysis of a child with early infantile epileptic encephalopathy 42.

Yan RAN ; Yuan LYU ; Hua BAI ; Chuang LI ; Jesse LI-LING

Chinese Journal of Medical Genetics 2021;38(2):127-130

3.Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene.

Yanping LIU ; Liu YANG ; Tingting LI ; Ruiming CAO ; Chunming REN ; Xiang LEI

Chinese Journal of Medical Genetics 2022;39(10):1145-1148

4.Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children.

Xiao Juan TIAN ; Xiao Hui WANG ; Chang Hong DING ; Fang FANG ; Li Fang DAI ; Jie DENG ; Hong Mei WANG

Chinese Journal of Pediatrics 2022;60(3):232-236

5.Analysis of SCN1A gene variants among patients with Dravet syndrome.

Li LI ; Dandan ZHU

Chinese Journal of Medical Genetics 2021;38(2):158-161

7.Genotypes and phenotypes of IQSEC2 gene variants related epilepsy.

Dian Hui WANG ; Xue Yang NIU ; Miao Miao CHENG ; Yi CHEN ; Ying YANG ; Xiao Ling YANG ; Zhi Xian YANG ; Yue Hua ZHANG

Chinese Journal of Pediatrics 2022;60(12):1317-1321

8.Clinical features and genome-wide copy number variation analysis in 60 children with early-onset epileptic encephalopathies of unknown cause.

Yu-Ping MA ; Jing PENG ; Ying WANG ; Yun CHEN ; Li-Wen WU ; Fei YIN

Chinese Journal of Contemporary Pediatrics 2014;16(11):1100-1104

9.A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis.

Jung Mu LEE ; Ae Suk KIM ; Sun Ju LEE ; Sung Min CHO ; Dong Seok LEE ; Sung Min CHOI ; Doo Kwun KIM ; Chang Seok KI ; Jong Won KIM

Journal of Korean Medical Science 2006;21(5):954-957

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