Clinical and functional study of two de novo variations of CDKL5 gene.

You, Yang; Men, Xinyi; Wu, Wenjuan; Liu, Shan; He, Xuexin; Sun, Suzhen; Wang, Xiuxia; Li, Baoguang

You, Yang; Men, Xinyi; Wu, Wenjuan; Liu, Shan; He, Xuexin; Sun, Suzhen; Wang, Xiuxia; Li, Baoguang.

Afiliação

You Y; Department of Imaging, The Fourth Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.
Men X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.
Wu W; Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
Liu S; Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
He X; Department of Rehabilitation, Shijiazhuang Hospital of Traditional Chinese Medicine, 233 Zhongshan Road, Shijiazhuang, Hebei, 050000, China.
Sun S; Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
Wang X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China. Xiuxiawang20221215@163.com.
Li B; Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China. 317491448@qq.com.

Neurogenetics ; 24(4): 263-271, 2023 Oct.

Article em En | MEDLINE | ID: mdl-37584787

Palavras-chave

CDKL5 gene; Developmental and epileptic encephalopathy; Intron variation

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

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