ArticleEpilepsy & behavior : E&B2017
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.
Article in Epilepsy & behavior : E&B, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Expression Profile of miRs in Mesial Temporal Lobe Epilepsy: Systematic Review.International journal of molecular sciences · 2022Pooled it
- Zygosity-Dependent Phenotypic Spectrum ofHuman mutation · 2026Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report.Acta epileptologica · 2024Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.Brain : a journal of neurology · 2022Article
- Review
- Molecular typing of familial temporal lobe epilepsy.World journal of psychiatry · 2022Review
- Considering the Role of Extracellular Matrix Molecules, in Particular Reelin, in Granule Cell Dispersion Related to Temporal Lobe Epilepsy.Frontiers in cell and developmental biology · 2022Review
- Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives.Frontiers in molecular neuroscience · 2022Review
- Epilepsy With Auditory Features: From Etiology to Treatment.Frontiers in neurology · 2021Review
- Reelin Mediates Hippocampal Cajal-Retzius Cell Positioning and Infrapyramidal Blade Morphogenesis.Journal of developmental biology · 2020Article
- Physiological significance of proteolytic processing of Reelin revealed by cleavage-resistant Reelin knock-in mice.Scientific reports · 2020Article
- TheJournal of clinical medicine · 2019Review
- Review
- DominantAnnals of clinical and translational neurology · 2019Article
- Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods.Epilepsy & behavior case reports · 2019Article
- Ephrin‑b3 modulates hippocampal neurogenesis and the reelin signaling pathway in a pilocarpine‑induced model of epilepsy.International journal of molecular medicine · 2018Article
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Authors and funding
16 authors at 9 institutions in 1 country.
Funding
Abstract
objectiveTo describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series.
methodsOut of 40 Italian families with ADLTE, collected by epileptologists participating in a collaborative study of the Commission for Genetics of the Italian League against Epilepsy encompassing a 14-year period (2000-2014), 7 (17.5%) were found to harbor heterozygous RELN mutations. The whole series also included 12 (30%) LGI1 mutated families and 21 (52.5%) non-mutated pedigrees. The clinical, neurophysiological, and neuroradiological findings of RELN and LGI1 mutated families were analyzed.
resultsOut of 28 affected individuals belonging to 7 RELN mutated families, 24 had sufficient clinical data available for the study. In these patients, the epilepsy onset occurred at a mean age of 20years, with focal seizures characterized by auditory auras in about 71% of the cases, associated in one-third of patients with aphasia, visual disturbances or other less common symptoms (vertigo or déjà-vu). Tonic-clonic seizures were reported by almost all patients (88%), preceded by typical aura in 67% of cases. Seizures were precipitated by environmental noises in 8% of patients and were completely or almost completely controlled by antiepileptic treatment in the vast majority of cases (96%). The interictal EEG recordings showed epileptiform abnormalities or focal slow waves in 80% of patients, localized over the temporal regions, with marked left predominance and conventional 1,5T MRI scans were not contributory. By comparing these findings with those observed in families with LGI1 mutations, we did not observe significant differences except for a higher rate of left-sided EEG abnormalities in the RELN group. SIGNIFICANCE: Heterozygous RELN mutations cause a typical ADLTE syndrome, indistinguishable from that associated with LGI1 mutations.
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