ArticleHuman molecular genetics2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.
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Who cites it
88 citing papers in PubMed, 1 synthesis or guideline pooled it, 263 citations in OpenAlex.
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- Epilepsy: Molecular Pathogenesis and Emerging Therapies.MedComm · 2026Review
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea.Biomedicines · 2024Article
- The role of copy number variants in the genetic architecture of common familial epilepsies.Epilepsia · 2024Article
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- Genetic mechanisms in generalized epilepsies.Acta epileptologica · 2023Review
- Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.Nature reviews. Neurology · 2022Review
- Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.Molecular genetics & genomic medicine · 2022Article
- Assessment of burden and segregation profiles of CNVs in patients with epilepsy.Annals of clinical and translational neurology · 2022Article
- The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders.International journal of molecular sciences · 2022Review
- Genetic generalized epilepsies in adults - challenging assumptions and dogmas.Nature reviews. Neurology · 2022Review
- Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.Journal of epilepsy research · 2020Article
- Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.Brain sciences · 2020Review
- Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.International journal of molecular sciences · 2020Review
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.Brain : a journal of neurology · 2020Article
- Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy.Molecular genetics & genomic medicine · 2020Article
- Genomic Variation, Evolvability, and the Paradox of Mental Illness.Frontiers in psychiatry · 2020Article
- A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.International journal of molecular sciences · 2019Review
- Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.Frontiers in neuroscience · 2019Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 7 institutions in 4 countries.
Funding
Abstract
Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determine the relative occurrence of sporadic and familial cases and to examine the likelihood of having seizures for individuals with the microdeletion in familial cases. The 15q13.3 microdeletion was identified in 7 of 539 (1.3%) unrelated cases of IGE using quantitative PCR or SNP arrays and confirmed by array comparative genomic hybridization analysis using probes specific to the 15q13.3 region. The inheritance of this lesion was tracked using family studies. Of the seven microdeletions identified in probands, three were de novo, two were transmitted from an unaffected parent and in two cases the parents were unavailable. Non-penetrance of the microdeletion was identified in 4/7 pedigrees and three pedigrees included other family members with IGE who lacked the 15q13.3 deletion. The odds ratio is 68 (95% confidence interval 29-181), indicating a pathogenic lesion predisposing to epilepsy with complex inheritance and incomplete penetrance for the IGE component of the phenotype in multiplex families.
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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.