Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.P43R
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LGI1

NM_005097.4:p.P43R

Associated Papers

A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

Hu P et al.

Cns Neuroscience & Therapeutics, 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

A novel LGI1 missense mutation causes dysfunction in cortical neuronal migration and seizures.

Liu F et al.

Brain Research, 2019

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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."