Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.S473L
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LGI1

NM_005097.4:p.S473L

Associated Papers

Phenylbutyrate for monogenetic epilepsy: Literature review.

Stone A et al.

Epilepsy Research, 2025

Structural insights into heterohexameric assembly of epilepsy-related ligand-receptor complex LGI1-ADAM22.

Yamaguchi T et al.

Elife, 2025

A novel Lgi1 mutation causes white matter abnormalities and impairs motor coordination in mice.

Teng XY et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

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

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

ADAM22 and ADAM23 modulate the targeting of the Kv1 channel-associated protein LGI1 to the axon initial segment.

Hivert B et al.

Journal of Cell Science, 2019

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

Yamagata A et al.

Nature Communications, 2018

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

Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1).

Tan GW et al.

Stem Cell Research, 2017

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

Fukata Y et al.

Neuroscience Research, 2017

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors.

Dazzo E et al.

Plos Genetics, 2016

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

Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.

Yokoi N et al.

Nature Medicine, 2015

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

Leonardi E et al.

Plos One, 2011

Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families.

Kawamata J et al.

Epilepsia, 2010

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C et al.

Human Mutation, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Rosanoff MJ et al.

Neurology, 2008

Genetic etiology of new forms of familial epilepsy.

Wang X et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.

Matsushima N et al.

Cellular and Molecular Life Sciences : Cmls, 2005

LGI1: a gene involved in epileptogenesis and glioma progression?

Gu W et al.

Neurogenetics, 2005

LGI1 mutations in temporal lobe epilepsies.

Berkovic SF et al.

Neurology, 2004

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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."