Data on mutations and Clinical features in SCN1A or SCN2A gene

Yanting Kong; Kai Yan; Liyuan Hu; Mingbang Wang; Xinran Dong; Yulan Lu; Bingbing Wu; Huijun Wang; Lin Yang; Wenhao Zhou

doi:10.1016/j.dib.2018.08.122

Data on mutations and Clinical features in SCN1A or SCN2A gene

Data Brief. 2018 Aug 30:22:492-501. doi: 10.1016/j.dib.2018.08.122. eCollection 2019 Feb.

Authors

Yanting Kong¹, Kai Yan¹, Liyuan Hu¹, Mingbang Wang¹, Xinran Dong^{2

3}, Yulan Lu^{2

3}, Bingbing Wu^{2

3}, Huijun Wang^{2

3}, Lin Yang⁴, Wenhao Zhou^{1

2

3}

Affiliations

¹ Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China.
² Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China.
³ Key Laboratory of Neonatal Diseases, Ministry of Health, Children׳s Hospital of Fudan University, Shanghai, China.
⁴ Division of Endocrinology, Genetics and Metabolic Diseases, Children׳s Hospital of Fudan University, Shanghai, 201102, China.

Abstract

Mutations in SCN1A and SCN2A 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 SCN1A mutations and 14 SCN2A mutations. While 22 mutations were novel in SCN1A and 11 were novel in SCN2A. 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 SCN1A and SCN2A.