Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.E383A
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LGI1

NM_005097.4:p.E383A

Associated Papers

Phenylbutyrate for monogenetic epilepsy: Literature review.

Stone A et al.

Epilepsy Research, 2025

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

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

Yamaguchi T et al.

Elife, 2025

Oligodendrocyte-derived LGI3 and its receptor ADAM23 organize juxtaparanodal Kv1 channel clustering for short-term synaptic plasticity.

Miyazaki Y et al.

Cell Reports, 2024

38194969 (PubMed )
Supplement: mmc3.pdf

A patient-derived mutation of epilepsy-linked LGI1 increases seizure susceptibility through regulating Kv1.1.

Zhou L et al.

Cell & Bioscience, 2023

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

Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.

Booth DG et al.

Glia, 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

Celecoxib Ameliorates Seizure Susceptibility in Autosomal Dominant Lateral Temporal Epilepsy.

Zhou L et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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

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 › Weak_segregation_support

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

Fukata Y et al.

Neuroscience Research, 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

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2013

A rat model for LGI1-related epilepsies.

Baulac S et al.

Human Molecular Genetics, 2012

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

Leonardi E et al.

Plos One, 2011

Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2.

Limviphuvadh V et al.

Bmc Biochemistry, 2010

Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy.

Fukata Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

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

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy.

Senechal KR et al.

Human Molecular Genetics, 2005

LGI1: a gene involved in epileptogenesis and glioma progression?

Gu W et al.

Neurogenetics, 2005

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

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Kalachikov S et al.

Nature Genetics, 2002

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