Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures

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• 作者：Kun-Long Hung^a ; ^b ; ¹ ; Jao-Shwann Liang^c ; ¹ ; Jinn-Shyan Wang^a ; Hui-Ju Chen^b ; ^d ; Li-Ju Lin^a ; Jyh-Feng Lu^a ; ^{jflu9421@gmail.com} ; ^{049696@mail.fju.edu.tw}
• 关键词：Febrile seizure ; Targeted next generation DNA sequencing ; GABRG2 ; PTGS2/COX-2 ; Single nucleotide polymorphism (SNP) ; Association study
• 刊名：Epilepsy Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：129
• 期：Complete
• 页码：1-7
• 全文大小：1039 K
• 卷排序：129

文摘

Association of a novel splicing variation (c.1249-1G > T) in GABRG2 with FS. PTGS2 SNP (rs689466; −1192A) exhibits linkage disequilibrium with FS. PTGS2 −1192A allele may confer susceptibility to FS in a recessive mode.