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LGI2 gene

Known as: KIAA1916, LGI2, FLJ10675 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
A boy with 13.34-Mb interstitial deletion of chromosome 4p15
Rationale: To date, >40 cases have been described with interstitial deletions involving the 4p15 region. Patient concerns and… Expand
2016
2016
A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies… Expand
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2012
2012
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
We report a consanguineous Iranian family affected by congenital profound sensorineural deafness segregating in an autosomal… Expand
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2012
2012
Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs
Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds… Expand
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Highly Cited
2011
Highly Cited
2011
LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs
One quadrillion synapses are laid in the first two years of postnatal construction of the human brain, which are then pruned… Expand
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2010
2010
Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2
BackgroundThe LGI2 (leucine-rich, glioma inactivated 2) gene, a prime candidate for partial epilepsy with pericentral spikes… Expand
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Highly Cited
2007
Highly Cited
2007
Benign familial juvenile epilepsy in Lagotto Romagnolo dogs.
BACKGROUND Idiopathic childhood epilepsies with benign outcomes are well recognized in human medicine, but are not reported in… Expand
2006
2006
Role of Lgi2 and Lgi3 in Mouse Nervous System Development
 
Highly Cited
2005
Highly Cited
2005
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy.
Mutations in LGI1 have been linked to autosomal dominant partial epilepsy with auditory features (ADPEAF), an unusual inherited… Expand
Highly Cited
2002
Highly Cited
2002
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine‐rich repeat proteins
Recently mutations in the LGI1 (leucine‐rich, glioma‐inactivated 1) gene have been found in human temporal lobe epilepsy. We have… Expand
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