Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.R474*
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LGI1

NM_005097.4:p.R474*

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2015-10225A4.xls › SNVIndel

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

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy.

Kanwal S et al.

Journal of Clinical Neurology (seoul, Korea), 2018

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

Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.

Chmielecki J et al.

Nature Genetics, 2013

23313954 (PubMed )
Supplement: NIHMS474988-supplement-1.pdf

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

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

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

Sirerol-Piquer MS et al.

Human Molecular Genetics, 2006

The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1.

Schulte U et al.

Neuron, 2006

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R et al.

Neurology, 2004

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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."