A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy

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Kanwal, Sumaira (Department of Biological Sciences, Kongju National University) ;
Yoo, Da Hye (Department of Biological Sciences, Kongju National University) ;
Tahir, Shahzad (Primary Psychiatric and Addiction treatment Center, Subh-e-Nao Hospital) ;
Lee, Su Jung (Department of Biological Sciences, Kongju National University) ;
Lee, Min Hee (Department of Biological Sciences, Kongju National University) ;
Choi, Byung-Ok (Department of Neurology, Samsung Medical Center and Samsung Advanced Institute for Health Science and Tech, Sungkyunkwan University School of Medicine) ;
Chung, Ki Wha (Department of Biological Sciences, Kongju National University)

Supported by : Ministry of Health & Welfare, National Research Foundation

El Achkar CM, Olson HE, Poduri A, Pearl PL. The genetics of the epilepsies. Curr Neurol Neurosci Rep 2015;15:39.
Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi FM, et al. Mutations in LGI1 cause autosomaldominant partial epilepsy with auditory features. Nat Genet 2002;30:335-341.
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A, Poza JJ, Galan J, et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 2002;11:1119-1128.
Chen T, Giri M, Xia Z, Subedi YN, Li Y. Genetic and epigenetic mechanisms of epilepsy: a review. Neuropsychiatr Dis Treat 2017;13:1841-1859.
Yamagata A, Miyazaki Y, Yokoi N, Shigematsu H, Sato Y, Goto-Ito S, et al. Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22. Nat Commun 2018;9:1546.