Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.I547insFs
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LGI1

NM_005097.4:p.I547insFs

Associated Papers

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

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C et al.

Human Mutation, 2009

LGI1: a gene involved in epileptogenesis and glioma progression?

Gu W et al.

Neurogenetics, 2005

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.

Fertig E et al.

Neurology, 2003

A common protein interaction domain links two recently identified epilepsy genes.

Scheel H et al.

Human Molecular Genetics, 2002

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

Kalachikov S et al.

Nature 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."