Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants

Open Access

Peer-reviewed

Research Article

Zhixian Yang ,

* E-mail: zhixian.yang@163.com

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Xiaoling Yang,

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Ye Wu,

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Jingmin Wang,

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Yuehua Zhang,

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Hui Xiong,

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Yuwu Jiang,

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯
Jiong Qin

Affiliation Department of Pediatrics, Peking University First Hospital, Xicheng District, Beijing, China
⨯

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Pyridoxine
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Heterozygosity
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Mutation
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Chinese people
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Diagnostic medicine
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Human genetics
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Sphingolipids
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Drug administration
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