Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.L385R
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LGI1

NM_005097.4:p.L385R

Associated Papers

Imbalance of glutamatergic and GABAergic neurotransmission in audiogenic seizure-susceptible Leucine-rich glioma-inactivated 1 (Lgi1)-mutant rats.

Kinboshi M et al.

Heliyon, 2023

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

Baudin P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Down-Regulation of Astrocytic Kir4.1 Channels during the Audiogenic Epileptogenesis in Leucine-Rich Glioma-Inactivated 1 (Lgi1) Mutant Rats.

Kinboshi M et al.

International Journal of Molecular Sciences, 2019

Molecular cloning and characterization of the family of feline leucine-rich glioma-inactivated (LGI) genes, and mutational analysis in familial spontaneous epileptic cats.

Yu Y et al.

Bmc Veterinary Research, 2017

Genetics of reflex seizures and epilepsies in humans and animals.

Italiano D et al.

Epilepsy Research, 2016

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

Advances on genetic rat models of epilepsy.

Serikawa T et al.

Experimental Animals, 2015

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Guerrini R et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2014

Evaluation of seizure foci and genes in the Lgi1(L385R/+) mutant rat.

Fumoto N et al.

Neuroscience Research, 2014

The molecular biology of genetic-based epilepsies.

Deng H et al.

Molecular Neurobiology, 2014

LGI proteins in the nervous system.

Kegel L et al.

Asn Neuro, 2013

A rat model for LGI1-related epilepsies.

Baulac S et al.

Human Molecular Genetics, 2012

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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."