SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.
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ABSTRACT:
SUBMITTER: Gong JE
PROVIDER: S-EPMC6455785 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
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SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.
Gong Jiao-E JE Liao Hong-Mei HM Long Hong-Yu HY Li Xiang-Min XM Long Li-Li LL Zhou Luo L Gu Wen-Ping WP Lu Shao-Hua SH Qu Qiang Q Yang Li-Min LM Xiao Bo B Qu Jian J
Medicine 20190301 13
Previous research identified SCN1B variants in some cases of Dravet syndrome (DS). We investigated whether SCN1B and SCN2B variants are commonly happened in DS patients without SCN1A variants. A total of 22 DS patients without SCN1A variants and 100 healthy controls were enrolled in this genetic study. DNA from DS patients was sequenced by Sanger method in whole exons of SCN1B and SCN2B genes. We identified two exon variants (c.351C>T, p.G117G and c.467C>T, p.T156M), which were present both in 1 ...[more]
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