Data on mutations and Clinical features in SCN1A or SCN2A gene.
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ABSTRACT:
SUBMITTER: Kong Y
PROVIDER: S-EPMC6314000 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Yanting Y Yan Kai K Hu Liyuan L Wang Mingbang M Dong Xinran X Lu Yulan Y Wu Bingbing B Wang Huijun H Yang Lin L Zhou Wenhao W
Data in brief 20180830
Mutations in <i>SCN1A</i> and <i>SCN2A</i> 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 <i>SCN1A</i> mutations and 14 <i>SCN2A</i> mutations. While 22 mutations were novel in <i>SCN1A</i> and 11 were novel in <i>SCN2A</i>. The clinical features were included of gender, birth history, family history, seizure onset age, seizure types, frequ ...[more]
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