ArticleEuropean journal of human genetics : EJHG2015
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.Annals of neurology · 2025Article
- Expanding the spectrum ofFrontiers in genetics · 2025Article
- Novel Copy Number Deletion InvolvingClinical case reports · 2025Article
- Genome-wide association study of delay discounting in Heterogeneous Stock rats.Genes, brain, and behavior · 2024Article
- Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability.Frontiers in genetics · 2024Article
- Genome-wide association study of delay discounting in Heterogenous Stock rats.bioRxiv : the preprint server for biology · 2023Article
- Morphological and behavioral analysis of Slc35f1-deficient mice revealed no neurodevelopmental phenotype.Brain structure & function · 2023Article
- Case report: A newFrontiers in genetics · 2023Article
- Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.Frontiers in genetics · 2023Article
- SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.American journal of medical genetics. Part A · 2021Article
- Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor.Epilepsy & behavior reports · 2021Article
- Article
- Research advances on neurite outgrowth inhibitor B receptor.Journal of cellular and molecular medicine · 2020Review
- Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.BMC neurology · 2019Article
- The role of de novo mutations in adult-onset neurodegenerative disorders.Acta neuropathologica · 2019Review
- Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC.Brain and behavior · 2018Article
- Article
- A conserved C-terminal RThe Journal of biological chemistry · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field of pediatric neurodevelopmental disorders. In a previous study, a novel epilepsy locus was identified on 6q16.3q22.31 by linkage analysis in a large pedigree. Subsequent array comparative genomic hybridization (array CGH) analysis of four unrelated cases narrowed this region to ∼5 Mb on 6q22.1q22.31. We sought to further narrow the critical region on chromosome 6q22. Array CGH analysis was used in genome-wide screen for CNVs of a large cohort of patients with neurological abnormalities. Long-range PCR and DNA sequencing were applied to precisely map chromosomal deletion breakpoints. Finally, real-time qPCR was used to estimate relative expression in the brain of the candidate genes. We identified six unrelated patients with overlapping microdeletions within 6q22.1q22.31 region, three of whom manifested seizures. Deletions were found to be de novo in 5/6 cases, including all subjects presenting with seizures. We sequenced the deletion breakpoints in four patients and narrowed the critical region to a ∼250-kb segment at 6q22.1 that includes NUS1, several expressed sequence tags (ESTs) that are highly expressed in the brain, and putative regulatory sequences of SLC35F1. Our findings indicate that dosage alteration in particular, of NUS1, EST AI858607, or SLC35F1 are important contributors to the neurodevelopmental phenotype associated with 6q22 deletion, including epilepsy and tremors.
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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.