Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human molecular genetics - 15 Jun 2005

Senechal Kristen R, Thaller Christina, Noebels Jeffrey L

Abstract excerpt

Mutations in LGI1 have been linked to autosomal dominant partial epilepsy with auditory features (ADPEAF), an unusual inherited human partial epilepsy phenotype. In addition, decreases in LGI1 expression are observed in glioblastoma patient samples and glioblastoma cell lines. LGI1, one member of the LGI gene family, encodes a approximately 63 kDa protein, with strong regional expression in neurons within the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Genes, Dominant
Share to In Situ Hybridization

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to NIH 3T3 Cells

Share to Proteins

Share to RNA Probes

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 15857855
DOI: 10.1093/hmg/ddi169

Genes

LGI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy.PMID 15857855Read ↗

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.Semantic proximity Read ↗

Disruption of LGI1–linked synaptic complex causes abnormal synaptic transmission and epilepsySemantic proximity Read ↗

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.Semantic proximity Read ↗

A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.Semantic proximity Read ↗

Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.Semantic proximity Read ↗

Leucine-rich glioma inactivated 1 (Lgi1), an epilepsy-related secreted protein, has a nuclear localization signal and localizes to both the cytoplasm and the nucleus of the caudal ganglionic eminence neurons.Semantic proximity Read ↗

Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene.Semantic proximity Read ↗

The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.Semantic proximity Read ↗

LGI1: from zebrafish to human epilepsy.Semantic proximity Read ↗

LGI proteins in the nervous system.Semantic proximity Read ↗

<i>LGI1</i>mutations in temporal lobe epilepsiesSemantic proximity Read ↗

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 ReceptorsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.