ArticleJournal of medical genetics2018
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
- Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review.Frontiers in genetics · 2023Article
- Expanding the Phenotypic and Genotypic Spectrum ofFrontiers in molecular neuroscience · 2022Article
- Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays.Frontiers in genetics · 2022Article
- Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Integrated 16S rRNA Gene Sequencing and LC-MS Analysis Revealed the Interplay Between Gut Microbiota and Plasma Metabolites in Rats With Ischemic Stroke.Journal of molecular neuroscience : MN · 2021Article
- Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.Frontiers in genetics · 2021Article
- Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.Frontiers in genetics · 2021Article
- Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.Human molecular genetics · 2020Article
- Temporal trends in incidence of Rolandic epilepsy, prevalence of comorbidities and prescribing trends: birth cohort study.Archives of disease in childhood · 2020Article
- Neurodevelopmental and associated changes in a patient with Xp22.31 duplication.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABANeurobiology of disease · 2020Article
- Epilepsy phenotype in patients with Xp22.31 microduplication.Epilepsy & behavior case reports · 2019Article
Corrections and comments
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Authors and funding
19 authors at 15 institutions in 7 countries.
Funding
Abstract
backgroundRolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in
objectiveTo identify rare, causal CNV in patients with RE.
methodsWe used high-density SNP arrays to analyse the presence of rare CNVs in 186 patients with RE from the UK, the USA, Sardinia, Argentina and Kerala, India.
resultsWe identified 84 patients with one or more rare CNVs, and, within this group, 14 (7.5%) with recurrent risk factor CNVs and 15 (8.0%) with likely pathogenic CNVs. Nine patients carried recurrent hotspot CNVs including at 16p13.11 and 1p36, with the most striking finding that four individuals (three from Sardinia) carried a duplication, and one a deletion, at Xp22.31. Five patients with RE carried a rare CNV that disrupted genes associated with other epilepsies (
conclusionOur results provide a CNV profile of an ethnically diverse cohort of patients with RE, uncovering new areas of research focus, and emphasise the importance of studying non-western European populations in oligogenic disorders to uncover a full picture of risk variation.
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