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Article

[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2020

Sun Wei-Hua, Zhuang Dan-Yan, Wang Yao, Xiao Fei-Fan, Wu Meng-Yuan, Dong Xin-Ran, Zhang Ping, Wang Hui-Jun, Zhou Wen-Hao, Wu Bing-Bing

Abstract excerpt

This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion. Their older brothers had the same symptoms. The mother of the boy 1 had mild...

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PMID: 32434645
PMCID: PMC7389393

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