Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.
Zhidong CenYou ChenDehao YangQingchen ZhuSi ChenXinhui ChenBo WangFei XieZhiyuan OuyangZhengwen JiangAisi FuBen HuHoumin YinXia QiuFeng YuXiaoping DuWeicheng HaoYuxi LiuHaotian WangLebo WangXiafei YuYichuan XiaoChunyu LiuJianfeng XiaoYongxing ZhouWei YangBaorong ZhangWei LuoPublished in: Movement disorders : official journal of the Movement Disorder Society (2019)
The targeted long-read sequencing helped us to elucidate the accurate structures of the (TTTGA)n and (TTTCA)n insertions. Our finding offers a novel possible cause for familial cortical myoclonic tremor with epilepsy and might shed light on the identification of genetic causes of this disease in pedigrees with no detected (TTTCA)n insertion in the reported causative genes. © 2019 International Parkinson and Movement Disorder Society.