ArticleNeurology. Genetics2018
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis.
Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Ras-MAPK somatic variants in mesial temporal lobe epilepsy.Current opinion in genetics & development · 2026Review
- Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes.Brain : a journal of neurology · 2025Article
- Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.Epilepsia · 2024Article
- Unraveling the role of non-coding rare variants in epilepsy.PloS one · 2023Article
- Article
- CpG methylation signature defines human temporal lobe epilepsy and predicts drug-resistant.CNS neuroscience & therapeutics · 2020Article
- Coatopathies: Genetic Disorders of Protein Coats.Annual review of cell and developmental biology · 2019Review
- Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2019Article
- Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy.Neurology. Genetics · 2018Article
- Genetic Contributions to Acquired Epilepsies.Epilepsy currentsArticle
- The Dilemma of the Chicken or the Egg-What Appears First in TLE-Seizures or Morphometric Changes in the Temporal Lobe?Epilepsy currentsArticle
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS).
methodsWhole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited.
resultsAfter quality control, WES data from 47 patients (26 female), including 23 complete trios, were available for analysis. Compared with population controls, significant enrichment of rare variants was observed in
conclusionsThe genetic architecture underlying MTHE-HS is complex. Multiple genes carrying de novo variants and rare variants among FMRP targets were identified, suggesting a pathogenic role. MTLE-HS and other neuropsychiatric disorders may have shared biology.
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Registered trials
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