Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.C46R
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LGI1

NM_005097.4:p.C46R

Associated Papers

A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

Hu P et al.

Cns Neuroscience & Therapeutics, 2022

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 insights into leucine-rich repeat-containing synaptic cleft molecules.

Yamagata A et al.

Current Opinion in Structural Biology, 2019

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

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Strong_segregation_support

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

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

Yokoi N et al.

Nature Medicine, 2015

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

Lee MK et al.

Seizure, 2014

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.

Berghuis B et al.

Epilepsy & Behavior : E&b, 2013

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

Leonardi E et al.

Plos One, 2011

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C et al.

Human Mutation, 2009

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

Rosanoff MJ et al.

Neurology, 2008

Somatic alterations in brain tumors.

Barnholtz-Sloan J et al.

Oncology Reports, 2008

Genetic etiology of new forms of familial epilepsy.

Wang X et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface.

Sirerol-Piquer MS et al.

Human Molecular Genetics, 2006

Speech-induced aphasic seizures in epilepsy caused by LGI1 mutation.

Brodtkorb E et al.

Epilepsia, 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

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R et al.

Neurology, 2004

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.

Michelucci R et al.

Epilepsia, 2003

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.

Fertig E et al.

Neurology, 2003

Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis.

Grond-Ginsbach C et al.

Annals of Neurology, 2002

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.

Gu W et al.

Annals of Neurology, 2002

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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."