A computational model of the LGI1 protein suggests a common binding site for ADAM proteins

E Leonardi, S Andreazza, S Vanin, G Busolin… - PLoS …, 2011 - journals.plos.org
Mutations of human leucine-rich glioma inactivated (LGI1) gene encoding the epitempin
protein cause autosomal dominant temporal lateral epilepsy (ADTLE), a rare familial partial …

Secretion-positive LGI1 mutations linked to lateral temporal epilepsy impair binding to ADAM22 and ADAM23 receptors

E Dazzo, E Leonardi, E Belluzzi, S Malacrida… - PLoS …, 2016 - journals.plos.org
Autosomal dominant lateral temporal epilepsy (ADTLE) is a focal epilepsy syndrome caused
by mutations in the LGI1 gene, which encodes a secreted protein. Most ADLTE-causing …

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

A Ayerdi-Izquierdo, G Stavrides, JJ Selles-Martinez… - Epilepsy research, 2006 - Elsevier
Mutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal lobe
epilepsy (ADLTE), a partial epilepsy characterized by the presence of auditory seizures …

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

E Staub, J Pérez-Tur, R Siebert, C Nobile… - Trends in biochemical …, 2002 - cell.com
Recent studies suggest that mutations in the LGI1/Epitempin gene cause autosomal
dominant lateral temporal epilepsy. This gene encodes a protein of unknown function, which …

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

E Chabrol, I Gourfinkel-An, IE Scheffer, F Picard… - Epilepsy research, 2007 - Elsevier
Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half
of the families with autosomal dominant lateral temporal epilepsy (ADLTE), suggesting that …

Mouse LGI3 gene: expression in brain and promoter analysis

SE Lee, AY Lee, WJ Park, DH Jun, NS Kwon, KJ Baek… - Gene, 2006 - Elsevier
Leucine-rich glioma inactivated 3 (LGI3) is a member of LGI/epitempin family of which the
first member, LGI1/epitempin, was shown to be mutated in glioma and autosomal dominant …

A patient-derived mutation of epilepsy-linked LGI1 increases seizure susceptibility through regulating Kv1.1

L Zhou, K Wang, Y Xu, BB Dong, DC Wu, ZX Wang… - Cell & Bioscience, 2023 - Springer
Background Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited
syndrome caused by mutations in the leucine-rich glioma inactivated 1 (LGI1) gene. It is …

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

JM Morante-Redolat, A Gorostidi-Pagola… - Human molecular …, 2002 - academic.oup.com
Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy
characterized by partial seizures, usually preceded by auditory signs. The gene for this …

Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

E Diani, C Di Bonaventura, O Mecarelli, A Gambardella… - Epilepsy research, 2008 - Elsevier
Mutations in the LGI1 gene are linked to autosomal dominant lateral temporal epilepsy
(ADTLE) in about half of the families tested, suggesting that ADLTE is genetically …

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

R Michelucci, JJ Poza, V Sofia, MR Feo, S Binelli… - …, 2003 - Wiley Online Library
Purpose: To describe the clinical and genetic findings of seven additional pedigrees with
autosomal dominant lateral temporal epilepsy (ADLTE). Methods: A personal and family …