Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.L373S
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LGI1

NM_005097.4:p.L373S

Associated Papers

The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.

Yamagata A et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.

Yamagata A et al.

Nature Communications, 2018

29670100 (PubMed )
Supplement: 41467_2018_3947_MOESM1_ESM.pdf

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

The LGI1-ADAM22 protein complex in synaptic transmission and synaptic disorders.

Fukata Y et al.

Neuroscience Research, 2017

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.

Michelucci R et al.

Epilepsy & Behavior : E&b, 2017

Genetic models of focal epilepsies.

Boillot M et al.

Journal of Neuroscience Methods, 2016

Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation.

Kesim YF et al.

Epilepsy Research, 2016

Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.

Dazzo E et al.

Epilepsy Research, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."