Article ID Journal Published Year Pages File Type
6284720 Neuroscience Letters 2011 4 Pages PDF
Abstract
► Identified a novel SCN1A mutation responsible to the GEFS+ family. ► The mutation p.Leu193Phe is the first S3/D1 mutation related to GEFS+. ► The substitution may add four hydrogen bonds with adjacent amino acids.
Related Topics
Life Sciences Neuroscience Neuroscience (General)
Authors
, , , , , , , , , , ,