Data on mutations and Clinical features in SCN1A or SCN2A gene

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 no...

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Detalles Bibliográficos
Autores principales: Kong, Yanting, Yan, Kai, Hu, Liyuan, Wang, Mingbang, Dong, Xinran, Lu, Yulan, Wu, Bingbing, Wang, Huijun, Yang, Lin, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Physics and Astronomy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314000/
https://www.ncbi.nlm.nih.gov/pubmed/30619928
http://dx.doi.org/10.1016/j.dib.2018.08.122
Descripción
Sumario: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.

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