Varaico: Literature-Extracted Genetic Variants

Gene:LGI1
Variant:p.M458L
Back to variants list

LGI1

NM_005097.4:p.M458L

Associated Papers

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 › Weak_segregation_support

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy.

Senechal KR et al.

Human Molecular Genetics, 2005

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R et al.

Neurology, 2004

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

Kalachikov S et al.

Nature Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."