Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.L144Splc
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LGI1

NM_005097.4:p.L144Splc

Associated Papers

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

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

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 › Strong_segregation_support

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

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.

Ho YY et al.

Neurology, 2012

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

Nobile C et al.

Human Mutation, 2009

Genetic etiology of new forms of familial epilepsy.

Wang X et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Chabrol E et al.

Archives of Neurology, 2007

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