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

 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 
 Seizure - European Journal of Epilepsy, Vol.23(1) : 69-73, 2014 
Journal Title
 Seizure - European Journal of Epilepsy 
Issue Date
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.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
김도의(Kim, Doh Eui)
김소원(Kim, So Won)
이문규(Lee, Moon Kyu)
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
이병인(Lee, Byung In)
이지현(Lee, Ji Hyun)
조양제(Cho, Yang Je)
허경(Heo, Kyoung)
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