Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.L232P
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LGI1

NM_005097.4:p.L232P

Associated Papers

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.

Hirano Y et al.

Brain : a Journal of Neurology, 2025

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

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

A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.

de Bellescize J et al.

Epilepsy Research, 2009

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

Genetic etiology of new forms of familial epilepsy.

Wang X et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Chabrol E et al.

Archives of Neurology, 2007

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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."