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A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy

Authors
 Moon Kyu Lee  ;  So Won Kim  ;  Ji Hyun Lee  ;  Yang-Je Cho  ;  Doh-Eui Kim  ;  Byung In Lee  ;  Ho Min Kim  ;  Min Goo Lee  ;  Kyoung Heo 
Citation
 SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, Vol.23(1) : 69-73, 2014 
Journal Title
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
ISSN
 1059-1311 
Issue Date
2014
MeSH
Adult ; Asian Continental Ancestry Group/genetics* ; Epilepsy, Temporal Lobe/diagnosis* ; Epilepsy, Temporal Lobe/genetics* ; Female ; Genes, Dominant/genetics* ; HEK293 Cells ; Humans ; Male ; Middle Aged ; Mutation, Missense/genetics* ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Protein Structure, Secondary ; Proteins/genetics* ; Young Adult
Keywords
Clinical features ; Genetic analysis ; Korean ADLTE family ; LGI1 ; Mutation
Abstract
PURPOSE: A new leucine-rich glioma-inactivated 1 gene (LGI1) mutation inducing an amino acid sequence substitution was found in a Korean family with autosomal dominant lateral temporal lobe epilepsy (ADLTE). We report the clinical features and characteristics of this newly identified LGI1 mutation.
METHODS: Clinical data were collected from a large ADLTE family. All exons and flanking regions of the LGI1 gene were directly sequenced. 243 healthy controls were screened for the putative mutation. The 'Sorting Tolerant From Intolerant' algorithm was employed for the prediction of mutated LGI1 protein stability. LGI1 protein secretion was confirmed in vitro by immunoblotting assay.
RESULTS: The main clinical characteristics included a young age at onset (mean, 12.4 years), diverse phenotypic manifestations, the occurrence of generalized tonic-clonic seizures, and a favorable prognosis. The genetic analysis detected a nonsynonymous single nucleotide polymorphism of c.137G>T coding for p.C46F in the five affected family members. This variant was not found in the normal control population and one unaffected family member. All the amino acids substituted for cysteine at position 46 of the LGI1 protein were predicted to damage protein stability in in silico analysis. Mutated C46F protein was retained within the cell at the immunoblotting assay.
CONCLUSION: We identified a new LGI1 mutation in a large Korean ADLTE family which appeared to be involved in the development of epilepsy through suppressing LGI1 protein secretion.
Full Text
http://www.sciencedirect.com/science/article/pii/S1059131113002781
DOI
10.1016/j.seizure.2013.10.001
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Kim, Doh Eui(김도의)
Kim, So Won(김소원)
Lee, Moon Kyu(이문규)
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Byung In(이병인)
Lee, Ji Hyun(이지현)
Cho, Yang Je(조양제)
Heo, Kyoung(허경)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/98103
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