J Clin Neurol.  2018 Oct;14(4):591-593. 10.3988/jcn.2018.14.4.591.

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

• Kanwal S
• Yoo DH
• Tahir S
• Lee SJ
• Lee MH
• Choi BO
• Chung KW

• KMID: 2424194
• DOI: http://doi.org/10.3988/jcn.2018.14.4.591

Abstract

No abstract available.

MeSH Terms

Codon, Nonsense*
Epilepsy, Temporal Lobe*
Temporal Lobe*
Codon, Nonsense

Figure

• 

  Fig. 1 LGI1 mutation in an ADLTE family. A: Pedigree of an ADLTE (EF-23) Pakistani family. The pedigree shows six affected individuals: A deceased father and five siblings. The genotype of the c.988C>T mutation in LGI1 is indicated underneath each examined individual. The proband (II-6) is indicated by an arrow. Open and filled symbols indicate unaffected and affected members, respectively. B: Sequencing chromatograms of the c.988C>T mutation in LGI1. The mutation site is indicated by the vertical arrow. C: Schematic of the domain structure of the IGI1 protein and the location of the p.R330X mutation (red box), which is located in the third EPTP domain. The p.R474X mutation was reported by Morante-Redolat et al.3 D: Conservation of the amino acids at the mutation site among several vertebrate species. ADLTE: autosomal dominant temporal lobe epilepsy, C-Cys: cysteinerich region from the C-terminal to the leucine-rich repeat region, EPTP: epitempin protein, LGI1: leucine-rich, glioma-inactivated-1, LRR: leucine-rich repeat region, N-Cys: cysteine-rich region from the N-terminal to the leucine-rich repeat region, SP: signal peptide.

Reference

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3. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Sáenz A, Poza JJ, Galán J, et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet. 2002; 11:1119–1128.

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