Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6284720 | Neuroscience Letters | 2011 | 4 Pages |
Abstract
⺠Identified a novel SCN1A mutation responsible to the GEFS+ family. ⺠The mutation p.Leu193Phe is the first S3/D1 mutation related to GEFS+. ⺠The substitution may add four hydrogen bonds with adjacent amino acids.
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Authors
Xiukun Cui, Feng Zeng, Ying Liu, Jing Zhang, Stephen Archacki, Tailan Zhan, Rong Du, Zhaohui Tang, Jingyu Liu, Qing K. Wang, Mugen Liu,