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
Affiliations
Yanting Kong
Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China
Kai Yan
Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China
Liyuan Hu
Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China
Mingbang Wang
Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China
Xinran Dong
Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China; Key Laboratory of Neonatal Diseases, Ministry of Health, Children׳s Hospital of Fudan University, Shanghai, China
Yulan Lu
Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China; Key Laboratory of Neonatal Diseases, Ministry of Health, Children׳s Hospital of Fudan University, Shanghai, China
Bingbing Wu
Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China; Key Laboratory of Neonatal Diseases, Ministry of Health, Children׳s Hospital of Fudan University, Shanghai, China
Huijun Wang
Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China; Key Laboratory of Neonatal Diseases, Ministry of Health, Children׳s Hospital of Fudan University, Shanghai, China
Lin Yang
Division of Endocrinology, Genetics and Metabolic Diseases, Children׳s Hospital of Fudan University, Shanghai, 201102, China; Corresponding author.
Wenhao Zhou
Division of Neonatology, Children׳s Hospital of Fudan University, Shanghai, China; Key Laboratory of Birth Defects, Children׳s Hospital of Fudan University, Shanghai, China; Key Laboratory of Neonatal Diseases, Ministry of Health, Children׳s Hospital of Fudan University, Shanghai, China; Corresponding author at: Division of Neonatology, Children׳s Hospital of Fudan University, 399 Wan Yuan Road, Shanghai 201102, China.
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.
