SCN1A或SCN2A基因的突变及临床特征数据。
Data on mutations and Clinical features in SCN1A or SCN2A gene.
作者信息
Kong Yanting, Yan Kai, Hu Liyuan, Wang Mingbang, Dong Xinran, Lu Yulan, Wu Bingbing, Wang Huijun, Yang Lin, Zhou Wenhao
机构信息
Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China.
Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China.
出版信息
Data Brief. 2018 Aug 30;22:492-501. doi: 10.1016/j.dib.2018.08.122. eCollection 2019 Feb.
Mutations in and are associated with a wide spectrum of epilepsy related disorders in human. This dataset presented variants and clinical features of SCN1A and SCN2A genes. A total of 48 cases were presented, including 33 mutations and 14 mutations. While 22 mutations were novel in and 11 were novel in . The clinical features were included of gender, birth history, family history, seizure onset age, seizure types, frequency of seizures, initial and follow-up EEGs, brain MRI findings, antiepileptic drugs, prognosis and developmental data. The data can provide insights on novel mutations and different phenotypes of and .
SCN1A和SCN2A基因的突变与人类多种癫痫相关疾病有关。该数据集展示了SCN1A和SCN2A基因的变异及临床特征。共呈现了48个病例，包括33个SCN1A突变和14个SCN2A突变。其中22个SCN1A突变是新发现的，11个SCN2A突变是新发现的。临床特征包括性别、出生史、家族史、癫痫发作起始年龄、发作类型、发作频率、初始和随访脑电图、脑部磁共振成像结果、抗癫痫药物、预后及发育数据。这些数据可为SCN1A和SCN2A基因的新突变及不同表型提供见解。
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