ArticleScientific reports2020
Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Multisite, Multiancestry Genome-Wide Association Study Meta-Analysis of Functional Seizure Disorder in a Hospital Sample of 675,680 Patients.Biological psychiatry global open science · 2026Article
- Genome-wide study of somatic symptom and related disorders identifies novel genomic loci and map genetic architecture.medRxiv : the preprint server for health sciences · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.Annals of neurology · 2024Article
- The imprint of dissociative seizures on the brain.NeuroImage. Clinical · 2024Article
- Polymorphism of glucocorticoid receptor gene (rs41423247) in functional seizures (psychogenic nonepileptic seizures/attacks).Epilepsia open · 2023Article
- Article
- Potential role of FKBP5 single-nucleotide polymorphisms in functional seizures.Epilepsia open · 2023Article
- A systems biology approach for discovering the cellular and molecular aspects of psychogenic non-epileptic seizure.Frontiers in psychiatry · 2023Article
- Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study.Frontiers in neurology · 2022Article
- Expanding the phenotypic spectrum ofFrontiers in molecular neuroscience · 2022Article
- Epilepsy and other seizure disorders in acute psychiatric inpatients.BMC psychiatry · 2021Article
- Is There a Characteristic Autonomic Response During Outbursts of Combative Behavior in Dementia Patients?Journal of Alzheimer's disease reports · 2021Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Psychogenic nonepileptic seizures (PNES) are diagnosed in approximately 30% of patients referred to tertiary care epilepsy centers. Little is known about the molecular pathology of PNES, much less about possible underlying genetic factors. We generated whole-exome sequencing and whole-genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants in 102 individuals with PNES and 448 individuals with focal (FE) or generalized (GE) epilepsy. Variants were classified for all individuals based on the ACMG-AMP 2015 guidelines. For research purposes only, we considered genes associated with neurological or psychiatric disorders as candidate genes for PNES. We observe in this first genetic investigation of PNES that six (5.88%) individuals with PNES without coexistent epilepsy carry P/LP variants (deletions at 10q11.22-q11.23, 10q23.1-q23.2, distal 16p11.2, and 17p13.3, and nonsynonymous variants in NSD1 and GABRA5). Notably, the burden of P/LP variants among the individuals with PNES was similar and not significantly different to the burden observed in the individuals with FE (3.05%) or GE (1.82%) (PNES vs. FE vs. GE (3 × 2 χ
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