Familial mesial temporal lobe epilepsy and the borderland of déjà vu

Perucca, Piero; Crompton, Douglas E; Bellows, Susannah T.; McIntosh, Anne M.; Kalinčík, Tomáš; Newton, Mark R.; Vajda, F. J. E.; Scheffer, Ingrid E.; Kwan, Patrick; O’Brien, Terence J.; Tan, K. Meng; Berkovic, Samuel F.

doi:10.1002/ana.24984

Cited by 24 publications

(40 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The latter finding suggests that epileptic DV does not have comparable qualitative and quantitative features with physiological DV and many patients are able to differentiate between seizure DV and non-seizure DV as recently reported by Warren-Gash and Zeman [8]. In accordance with these findings, a recent study nicely demonstrated that suspicious manifestations accompanying DV only occurred in patients with mesial TLE or their relatives, but not in control individuals [17].…”

Section: Discussionsupporting

confidence: 67%

“…There are a few limitations that must be considered. First, educational background was not analysed; however, this parameter is not considered relevant even in long‐term follow‐up studies in epileptic patients and the vast majority of the control group were mainly people from the neurology clinic, medical students and staff from each hospital representing a medium or high level of education. Secondly, although other possible clinical variables were not taken into account or not analysed the large sample size screened in the current study gave a robust consistency to our results.…”

Section: Discussionmentioning

confidence: 99%

“…There are a few limitations that must be considered. First, educational background was not analysed; however, this parameter is not considered relevant even in long-term follow-up studies in epileptic patients [17] and the vast majority of the control group were mainly people Significant correlations are given in bold. from the neurology clinic, medical students and staff from each hospital representing a medium or high level of education.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Insight into epileptic and physiological déjà vu: from a multicentric cohort study

Labate

Baggetta

Trimboli

et al. 2018

Euro J of Neurology

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Insight into epileptic and physiological déjà vu: from a multicentric cohort study

Labate

Baggetta

Trimboli

et al. 2018

Euro J of Neurology

View full text Add to dashboard Cite

show abstract

“…Similarities have been noted between TLE-related and 'healthy' (i.e. non-pathological) déjà vu (Warren-Gash & Zeman, 2003;Moulin 2014) in terms of the phenomenology and intensity of these episodes, although it may be that déjà vu symptoms are on a continuum between healthy and epileptic déjà vu (Perucca et al, 2017). Labate et al (2015) compared healthy participants who had and had not experienced déjà vu and patients with benign TLE who did or did not experience déjà vu as part of their epilepsy.…”

Section: Introductionmentioning

confidence: 77%

“…Gloor, Oliver & Quesney, 1982). Structural differences in memory and emotion-related circuitry are apparent when comparing healthy individuals who experience déjà vu and individuals with TLE and déjà vu (Labate et al, 2015), and indeed research comparing the phenomenology of déjà vu in these two groups remains somewhat inconclusive as to the extent to which they are the same (Warren-Gash & Zeman, 2001;Moulin, 2014;Perucca et al, 2017). Perhaps then, the phenomenological differences we report between our controls and the Anxiety Group also reflect underlying structural differences in memory and/or emotion-related circuitry.…”

Section: Discussionmentioning

confidence: 99%

Déjà vu experiences in anxiety

Wells

O'Connor

Moulin

2018

Memory

View full text Add to dashboard Cite

Déjà vu experiences in anxiety Déjà vu occurs when a novel event is experienced with an erroneous sense of familiarity. Memory researchers theorise that this arises due to an error in the processes underlying the recognition memory system. Research has indicated that there may be a link between high levels of anxiety and increased frequency and intensity of déjà vu, however there has been comparatively little characterisation of déjà vu as experienced by individuals with clinical anxiety. We used an online questionnaire to collect data from individuals self-reporting a clinical diagnosis of anxiety, as well as from age-matched controls. The Anxiety Group reported a significantly higher frequency of déjà vu episodes over the previous month than controls. They also reported experiencing déjà vu more frequently and with higher intensity during periods of high anxiety. In addition, the Anxiety Group reported finding déjà vu episodes significantly more distressing than the control group. The findings indicate that there are differences in déjà vu experienced by people reporting high levels of anxiety compared to healthy controls without an anxiety diagnosis. We discuss structural and neural mechanisms thought to underpin déjà vu in relation to these results.

show abstract

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

Harris,

Oliver,

Perucca

et al. 2023

Annals of Neurology

Self Cite

View full text Add to dashboard Cite

ObjectiveFamilial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with febrile seizures and hippocampal sclerosis. We aimed to refine the phenotype of FMTLE by analyzing a large cohort of patients and asked whether common risk variants for focal epilepsy and/or febrile seizures, measured by polygenic risk scores (PRS), are enriched in individuals with FMTLE.MethodsWe studied 134 families with ≥ 2 first or second‐degree relatives with temporal lobe epilepsy, with clear mesial ictal semiology required in at least one individual. PRS were calculated for 227 FMTLE cases, 124 unaffected relatives, and 16,077 population controls.ResultsThe age of patients with FMTLE onset ranged from 2.5 to 70 years (median = 18, interquartile range = 13–28 years). The most common focal seizure symptom was déjà vu (62% of cases), followed by epigastric rising sensation (34%), and fear or anxiety (22%). The clinical spectrum included rare cases with drug‐resistance and/or hippocampal sclerosis. FMTLE cases had a higher mean focal epilepsy PRS than population controls (odds ratio = 1.24, 95% confidence interval = 1.06, 1.46, p = 0.007); in contrast, no enrichment for the febrile seizure PRS was observed.InterpretationFMTLE is a generally mild drug‐responsive syndrome with déjà vu being the commonest symptom. In contrast to dominant monogenic focal epilepsy syndromes, our molecular data support a polygenic basis for FMTLE. Furthermore, the PRS data suggest that sub‐genome‐wide significant focal epilepsy genome‐wide association study single nucleotide polymorphisms are important risk variants for FMTLE. ANN NEUROL 2023

show abstract

Familial mesial temporal lobe epilepsy and the borderland of déjà vu

Cited by 24 publications

References 38 publications

Insight into epileptic and physiological déjà vu: from a multicentric cohort study

Insight into epileptic and physiological déjà vu: from a multicentric cohort study

Déjà vu experiences in anxiety

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

Contact Info

Product

Resources

About