ArticleNeurology2012
Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- Lgi3-4 proteins modulate the KV1.5 channelosome and are potential therapeutic targets for atrial fibrillation.Cardiovascular research · 2026Article
- LGI1 Autoantibodies Enhance Synaptic Transmission by Presynaptic KNeurology(R) neuroimmunology & neuroinflammation · 2024Article
- Celecoxib Ameliorates Seizure Susceptibility in Autosomal Dominant Lateral Temporal Epilepsy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors.PLoS genetics · 2016Article
- Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects.Molecular syndromology · 2016Review
- Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.Frontiers in cellular neuroscience · 2016Review
- Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.Nature medicine · 2015Article
- Genetic forms of epilepsies and other paroxysmal disorders.Seminars in neurology · 2014Review
- The molecular biology of genetic-based epilepsies.Molecular neurobiology · 2014Review
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- LGI proteins in the nervous system.ASN neuro · 2013Review
- LGI Proteins and Epilepsy in Human and Animals.Journal of veterinary internal medicineReview
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
objectiveIn families with autosomal dominant partial epilepsy with auditory features (ADPEAF) with mutations in the LGI1 gene, we evaluated clustering of mutations within the gene and associations of penetrance and phenotypic features with mutation location and predicted effect (truncation or missense).
methodsWe abstracted clinical and molecular information from the literature for all 36 previously published ADPEAF families with LGI1 mutations. We used a sliding window approach to analyze mutation clustering within the gene. Each mutation was mapped to one of the gene's 2 major functional domains, N-terminal leucine-rich repeats (LRRs) and C-terminal epitempin (EPTP) repeats, and classified according to predicted effect on the encoded protein (truncation vs missense). Analyses of phenotypic features (age at onset and occurrence of auditory symptoms) in relation to mutation site and predicted effect included 160 patients with idiopathic focal unprovoked seizures from the 36 families.
resultsADPEAF-causing mutations clustered significantly in the LRR domain (exons 3-5) of LGI1 (p = 0.026). Auditory symptoms were less frequent in individuals with truncation mutations in the EPTP domain than in those with other mutation type/domain combinations (58% vs 80%, p = 0.018).
conclusionThe LRR region of the LGI1 gene is likely to play a major role in pathogenesis of ADPEAF.
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Registered trials
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