Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.R407C
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LGI1

NM_005097.4:p.R407C

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

40455867 (PubMed )
Supplement: awaf202_supplementary_data.pdf

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

Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.

Yamagata A et al.

Cellular and Molecular Life Sciences : Cmls, 2020

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

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

Evaluation of seizure foci and genes in the Lgi1(L385R/+) mutant rat.

Fumoto N et al.

Neuroscience Research, 2014

The molecular biology of genetic-based epilepsies.

Deng H et al.

Molecular Neurobiology, 2014

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 rat model for LGI1-related epilepsies.

Baulac S et al.

Human Molecular Genetics, 2012

Genetics of epilepsy and relevance to current practice.

Michelucci R et al.

Current Neurology and Neuroscience Reports, 2012

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

Striano P et al.

Neurology, 2011

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

Leonardi E et al.

Plos One, 2011

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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."