A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.

Hua, Yi; Cui, Di; Han, Lin; Xu, Lu; Mao, Shanshan; Yang, Cuiwei; Gao, Feng; Yuan, Zhefeng

Hua, Yi; Cui, Di; Han, Lin; Xu, Lu; Mao, Shanshan; Yang, Cuiwei; Gao, Feng; Yuan, Zhefeng.

Afiliação

Hua Y; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center For Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Cui D; Running Gene Inc., Beijing, 100083, China.
Han L; Running Gene Inc., Beijing, 100083, China.
Xu L; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center For Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Mao S; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center For Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Yang C; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center For Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Gao F; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center For Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China. epilepsy@zju.edu.cn.
Yuan Z; Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center For Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China. chyzf@zju.edu.cn.

BMC Med Genomics ; 15(1): 159, 2022 07 15.

Article em En | MEDLINE | ID: mdl-35840956

Assuntos

Canal de Sódio Disparado por Voltagem NAV1.7; Reto; Doenças do Sistema Nervoso Autônomo; Bradicardia; China; Feminino; Rubor; Humanos; Hipo-Hidrose; Lactente; Mutação; Canal de Sódio Disparado por Voltagem NAV1.7/genética; Dor/genética; Linhagem; Reto/anormalidades; Convulsões

Palavras-chave

Case report; Harlequin color change (HCC); Headache; Paroxysmal extreme pain disorder (PEPD); SCN9A gene

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Reto / Canal de Sódio Disparado por Voltagem NAV1.7 Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: BMC Med Genomics Ano de publicação: 2022 Tipo de documento: Article

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