201. A novel Lgi1 mutation causes white matter abnormalities and impairs motor coordination in mice
- Author
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Xiao‐Yu Teng, Ping Hu, Yangyang Chen, Yanyu Zang, Xiaolian Ye, Jingmin Ou, Guiquan Chen, and Yun Stone Shi
- Subjects
Male ,Movement ,Intracellular Signaling Peptides and Proteins ,Mutation, Missense ,Biochemistry ,White Matter ,Mice, Inbred C57BL ,Mice ,Genetics ,Animals ,Female ,Molecular Biology ,Postural Balance ,Biotechnology - Abstract
Leucine-rich glioma-inactivated protein 1 (LGI1) is known to play a key role in autosomal dominant lateral temporal lobe epilepsy (ADLTE). The ADLTE is an inherited disease characterized by focal seizures with distinctive auditory or aphasic symptoms. A large number of mutations on the Lgi1 gene have been reported and are believed to be the genetic cause for ADLTE. We identified a novel missense mutation, c.152AG (p.Asp51Gly), on Lgi1 from a Chinese ADLTE patient who manifests locomotor imbalance and white matter reduction. However, it remains unknown how mutant LGI1 causes white matter abnormalities at molecular and cellular levels. Here, we generated a knock-in mouse bearing this Lgi1 mutation. We found that Lgi1
- Published
- 2022