Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.R136W
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LGI1

NM_005097.4:p.R136W

Associated Papers

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

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__All_somatic_mutation

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

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

Genetics of reflex seizures and epilepsies in humans and animals.

Italiano D et al.

Epilepsy Research, 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

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

Michelucci R et al.

Epilepsia, 2013

Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.

Di Bonaventura C et al.

Epilepsia, 2011

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

Leonardi E et al.

Plos One, 2011

Lateral temporal lobe epilepsies: clinical and genetic features.

Michelucci R et al.

Epilepsia, 2009

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C et al.

Human Mutation, 2009

A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.

Michelucci R et al.

Neurology, 2007

Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Lohi H et al.

Neurology, 2007

[Genetic factors and a polygenic model of Alzheimer's disease].

Rogaev EI

Genetika, 1999

[Analysis of the association of inherited predisposition to breast cancer with c-Ha-ras-1 oncogene alleles].

Nefedov MD et al.

Genetika, 1990

[Genetic polymorphism of transferrins and postalbumins in cattle].

Fomicheva II

Genetika, 1973

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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."