ArticleNeurology2008
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.
Article in Neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 67 citations in OpenAlex.
- WWP1 gain-of-function drives developmental anoikis through TGFβ pathway during neurodevelopment.Cell death discovery · 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
- Review
- A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.CNS neuroscience & therapeutics · 2022Article
- The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.Cellular and molecular life sciences : CMLS · 2021Review
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.Frontiers of medicine · 2021Article
- Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.Cellular and molecular life sciences : CMLS · 2020Review
- 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
- Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.Journal of neurology · 2016Article
- Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.Nature medicine · 2015Article
- LGI proteins in the nervous system.ASN neuro · 2013Review
- [Genetics of idiopathic epilepsies].Der Nervenarzt · 2013Review
- Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.Neurology · 2012Article
- Temporal lobe epilepsy semiology.Epilepsy research and treatment · 2012Article
- Genetic testing in epilepsy: what should you be doing?Epilepsy currents · 2011Article
- LGI2 truncation causes a remitting focal epilepsy in dogs.PLoS genetics · 2011Article
- Genetic variations and associated pathophysiology in the management of epilepsy.The application of clinical genetics · 2011Article
- Dual DNA methylation patterns in the CNS reveal developmentally poised chromatin and monoallelic expression of critical genes.PloS one · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAssessment of the penetrance of disease-causing mutations is extremely important for developing clinical applications of gene discovery, such as genetic testing and counseling. Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) have been identified in about 50% of families with autosomal dominant partial epilepsy with auditory features (ADPEAF), but estimates of LGI1 mutation penetrance have ranged widely, from 50 to 85%. The current study aimed to provide a more precise estimate of LGI1 mutation penetrance.
methodsWe analyzed data from all 24 previously published ADPEAF families with mutations in LGI1. To estimate penetrance, we used the information from the published pedigree figures to determine the proportion of obligate carriers who were affected. We assessed whether penetrance was associated with the total number of affected individuals in each family, or mutation type (truncating or missense) or location within the gene. We also compared penetrance in males and females, and among different generations within the families.
resultsOverall penetrance was 67% (95% CI 55-77%), and did not vary according to mutation type or location within the gene. Penetrance was greater in families with more affected individuals, but this trend was not significant. Penetrance did not differ by gender but increased with advancing generation, probably because of limited information about early generations.
conclusionsOur results suggest that about two-thirds of individuals who inherit a mutation in LGI1 will develop epilepsy. This probably overestimates the true penetrance in the population because it is based on data from families containing multiple affected individuals.
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Registered trials
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.