Article
Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures.
Epilepsy research - 1 Jan 2017
Hung Kun-Long, Liang Jao-Shwann, Wang Jinn-Shyan, Chen Hui-Ju, Lin Li-Ju, Lu Jyh-Feng
Abstract excerpt
Febrile seizure (FS) is the most common type of convulsion in infants and young children. The occurrence of FS in a subset of children with febrile illness suggested genetic factors may have an important effect on the predisposition of the disease. Using targeted next generation sequencing (NGS), a novel splicing variation (NM_198903.2:c.1249-1G>T) was identified in the γ-aminobutyric acid type A (GABA-A)...
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