Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

Leu, Costin; Bautista, Jocelyn F.; Sudarsanam, Monica; Niestroj, Lisa‐Marie; Stefanski, Arthur; Ferguson, Lisa; Daly, Mark J.; Jehi, Lara; Najm, Imad; Busch, Robyn M.; Lal, Dennis

doi:10.1038/s41598-020-72101-8

Cited by 12 publications

(14 citation statements)

References 49 publications

(68 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A recent study generated whole‐exome sequencing and whole‐genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants in 102 patients with FS and 448 individuals with epilepsy; they observe that six (5.9%) individuals with FS carried P/LP variants 26 . Considering this study and also our observations, it seems that further genetic investigations of patients with FS may increase our understanding of the neurobiological underpinnings of this condition and may lead to new horizons in the field.…”

Section: Discussionmentioning

confidence: 99%

Potential role of FKBP5 single‐nucleotide polymorphisms in functional seizures

et al. 2023

View full text Add to dashboard Cite

Objective We investigated the associations between FKBP5 single‐nucleotide polymorphisms (SNPs) and functional seizures (FS). Methods Seventy patients with FS, 140 with major depressive disorder (MDD), and 140 healthy controls were studied. Their DNAs were analyzed for the rs1360780 in the 3′ region and rs9470080 in the 5′ region of the FKBP5. Childhood trauma questionnaire and hospital anxiety and depression scale were used. Results Patients with FS and those with MDD had less GG and more AA genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. Similar results were observed for allelic frequencies. There were no significant differences between FS and MDD groups in terms of genotype and allelic frequencies for both SNPs. The results of multinomial logistic regression analysis showed that FKBP5 polymorphisms were not associated with the diagnosis. Significance Patients with FS and those with MDD had significantly different genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. However, it seems that FKBP5 polymorphisms were not associated with FS in the absence of depression. Further genetic investigations of patients with FS may increase our understanding of the neurobiological underpinnings of this condition, but such studies should be large enough and very well designed; they should include a comparison group with depression in addition to a healthy control group.

show abstract

Section: Discussionmentioning

confidence: 99%

Potential role of FKBP5 single‐nucleotide polymorphisms in functional seizures

et al. 2023

View full text Add to dashboard Cite

show abstract

“…The epileptic affliction of patients in this clinical sample spanned from a history of drug-resistant and debilitating chronic epilepsies, well-controlled epilepsy, epilepsy resolved (including self-limited childhood epilepsies), as well as recurrent acute symptomatic seizures. The high frequency of past or present epileptic seizures suggests that the brains of many of these people might harbor a shared susceptibility to both psychiatric and seizure disorders possibly by overlapping genetic variants and network abnormalities [ 18 – 20 ].…”

Section: Discussionmentioning

confidence: 99%

Epilepsy and other seizure disorders in acute psychiatric inpatients

et al. 2021

View full text Add to dashboard Cite

Background It is well known that patients with epilepsy have a high rate of psychiatric comorbidity. However, studies exploring epilepsy in psychiatric cohorts are scarce. The aim of this study was to examine the prevalence of seizure disorders in acute psychiatric inpatients. Methods This is a cross-sectional study performed in a catchment-area based acute psychiatric department. All patients (age > 18) admitted during September 2011 - March 2012 were eligible for inclusion. Consenting patients were screened for a life-time history of epilepsy or seizures using self-reported questionnaire data and diagnostic codes for epilepsy in hospital and National registries. Patients scoring positive to one or more of these screening criteria underwent a thorough diagnostic validation (chart review), and the seizure disorders were classified as epilepsy, acute symptomatic seizures and/or psychogenic non-epileptic seizures according to current definitions. Results A total of 380 out of 591 (64.3%) consecutively admitted patients consented to participate in the study. Eighty-nine patients (23.4%) scored positive to one or more screening criteria. Fifteen (3.9%) were classified with epilepsy, 21 (5.5%) with acute symptomatic seizures and 9 (2.4%) with psychogenic non-epileptic seizures. Conclusions This is the first study to report on the prevalence of seizure disorders in acute psychiatric inpatients. The life-time prevalence of epilepsy in this cohort of patients is five – six times as high as reports in the general population. These findings underscore the need for the clinical psychiatrist to have comprehensive knowledge on the interface between epileptology and psychiatry. Trials registration ClinicalTrials.gov identifier NCT01415323.

show abstract

“…Genetic studies may also suggest a variety of candidate drugs as possible treatments [ 33 ]. Although the study of the genetics of PNES has only recently begun [ 36 ], our hypothesis provides a framework for integrating results with those of neurodegenerative diseases. From a practical perspective, wristband devices that monitor skin conductance and heart rate are ideal for monitoring this autonomic response.…”

Section: Discussionmentioning

confidence: 99%

Is There a Characteristic Autonomic Response During Outbursts of Combative Behavior in Dementia Patients?

Deutsch

Patnaik

Greco

2021

ADR

View full text Add to dashboard Cite

We sought to determine whether skin conductance level could warn of outbursts of combative behavior in dementia patients by using a wristband device. Two outbursts were captured and are reported here. Although no physiologic parameter measured by the wristband gave advance warning, there is a common pattern of parasympathetic withdrawal (increased heart rate) followed approximately 30 seconds later by sympathetic activation (increased skin conductance). In the literature, a similar pattern occurs in psychogenic non-epileptic seizures. We hypothesize that similar autonomic responses reflect similarities in pathophysiology and that physical activity may partially account for the time course of skin conductance.

show abstract

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

Cited by 12 publications

References 49 publications

Potential role of FKBP5 single‐nucleotide polymorphisms in functional seizures

Potential role of FKBP5 single‐nucleotide polymorphisms in functional seizures

Epilepsy and other seizure disorders in acute psychiatric inpatients

Is There a Characteristic Autonomic Response During Outbursts of Combative Behavior in Dementia Patients?

Contact Info

Product

Resources

About