ArticleEpilepsia2002
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.
Article in Epilepsia, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 62 citations in OpenAlex.
- Consanguinity in patients with mesial temporal lobe epilepsy due to hippocampal sclerosis in a Saudi population.Neurosciences (Riyadh, Saudi Arabia) · 2020Article
- Genetic and epigenetic mechanisms of epilepsy: a review.Neuropsychiatric disease and treatment · 2017Review
- Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.Brain : a journal of neurology · 2014Article
- LGI proteins in the nervous system.ASN neuro · 2013Review
- Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.Neurology · 2012Article
- Genetics of temporal lobe epilepsy: a review.Epilepsy research and treatment · 2012Article
- Differential brain glucose metabolic patterns in antipsychotic-naïve first-episode schizophrenia with and without auditory verbal hallucinations.Journal of psychiatry & neuroscience : JPN · 2011Article
- ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy.Epilepsy research and treatment · 2011Article
- Evaluation of depression risk in LGI1 mutation carriers.Epilepsia · 2010Article
- Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.Brain : a journal of neurology · 2010Article
- Altered language processing in autosomal dominant partial epilepsy with auditory features.Neurology · 2008Article
- Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.Neurology · 2008Article
- Article
- LGI1: a gene involved in epileptogenesis and glioma progression?Neurogenetics · 2005Review
- Recruitment of families for genetic studies of epilepsy.Epilepsia · 2005Article
- LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.Journal of neurology · 2005Article
- Article
- Evidence for distinct genetic influences on generalized and localization-related epilepsy.Epilepsia · 2003Article
- Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.Nature genetics · 2002Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeAutosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of nonprogressive lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. The gene predisposing to this syndrome was localized to a 10-cM region on chromosome 10q24. We assessed clinical features and linkage evidence in four newly ascertained families with ADPEAF, to refine the clinical phenotype and confirm the genetic localization.
methodsWe genotyped 41 individuals at seven microsatellite markers spanning the previously defined 10-cM minimal genetic region. We conducted two-point linkage analysis with the ANALYZE computer package, and multipoint parametric and nonparametric linkage analyses as implemented in GENEHUNTER2.
resultsIn the four families, the number of individuals with idiopathic epilepsy ranged from three to nine. Epilepsy was focal in all of those with idiopathic epilepsy who could be classified. The proportion with auditory symptoms ranged from 67 to 100%. Other ictal symptoms also were reported; of these, sensory symptoms were most common. Linkage analysis showed a maximum 2-point LOD score of 1.86 at (theta=0.0 for marker D10S603, and a maximum multipoint LOD score of 2.93.
conclusionsThese findings provide strong confirmation of linkage of a gene causing ADPEAF to chromosome 10q24. The results suggest that the susceptibility gene has a differential effect on the lateral temporal lobe, thereby producing the characteristic clinical features described here. Molecular studies aimed at the identification of the causative gene are underway.
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