ArticleNature genetics2002
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.
Article in Nature genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 195 papers, 3 of them syntheses that pooled it.
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Who cites it
195 citing papers in PubMed, 3 syntheses or guidelines pooled it, 625 citations in OpenAlex.
- Anti-LGI1, anti-GABABR, and Anti-CASPR2 encephalitides in Asia: A systematic review.Brain and behavior · 2020Pooled it
- Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.Journal of the American Heart Association · 2020Pooled it
- The prevalence of psychosis in epilepsy; a systematic review and meta-analysis.BMC psychiatry · 2014Pooled it
- A decade later: a longitudinal retrospective cohort study of the clinical course of childhood-onset epilepsy in a multi-ethnic tertiary centre.Acta epileptologica · 2026Article
- Lgi3-4 proteins modulate the KV1.5 channelosome and are potential therapeutic targets for atrial fibrillation.Cardiovascular research · 2026Article
- Infantile Epileptic Spasm Syndrome Caused byHuman mutation · 2026Article
- Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing.Noro psikiyatri arsivi · 2026Article
- Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes.Brain : a journal of neurology · 2025Article
- Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.Brain : a journal of neurology · 2025Article
- Structural insights into heterohexameric assembly of epilepsy-related ligand-receptor complex LGI1-ADAM22.eLife · 2025Article
- Distinctive seizure signature in the first video case-control study of a naturally-occurring feline autoimmune encephalitis model.Brain, behavior, and immunity · 2025Article
- A role for leucine-rich, glioma inactivated 1 in regulating pain sensitivity.Brain : a journal of neurology · 2025Article
- Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family.BMJ neurology open · 2025Article
- LGI1 Autoantibodies Enhance Synaptic Transmission by Presynaptic KNeurology(R) neuroimmunology & neuroinflammation · 2024Article
- OPALIN is an LGI1 receptor promoting oligodendrocyte differentiation.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Activity-driven synaptic translocation of LGI1 controls excitatory neurotransmission.Cell reports · 2024Article
- Oligodendrocyte-derived LGI3 and its receptor ADAM23 organize juxtaparanodal Kv1 channel clustering for short-term synaptic plasticity.Cell reports · 2024Article
- Rescue of Normal Excitability in LGI1-Deficient Epileptic Neurons.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Unexplained Causes of Glioma-Associated Epilepsies: A Review of Theories and an Area for Research.Cancers · 2023Review
- Imbalance of glutamatergic and GABAergic neurotransmission in audiogenic seizure-susceptible LHeliyon · 2023Article
135 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 1 country.
Funding
Abstract
The epilepsies are a common, clinically heterogeneous group of disorders defined by recurrent unprovoked seizures. Here we describe identification of the causative gene in autosomal-dominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. We constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes (Fig. 1) and resequenced all or part of 21 genes before identifying presumptive mutations in one copy of the leucine-rich, glioma-inactivated 1 gene (LGI1) in each of five families with ADPEAF. Previous studies have indicated that loss of both copies of LGI1 promotes glial tumor progression. We show that the expression pattern of mouse Lgi1 is predominantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Discovery of LGI1 as a cause of ADPEAF suggests new avenues for research on pathogenic mechanisms of idiopathic epilepsies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.