Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.A253delFs
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LGI1

NM_005097.4:p.A253delFs

Associated Papers

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

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

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

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

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

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

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families.

Michelucci R et al.

Epilepsia, 2003

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

Morante-Redolat JM et al.

Human Molecular Genetics, 2002

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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."