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Annals of Neurology Nov 2023Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary...
OBJECTIVE
Familial 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.
METHODS
We 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.
RESULTS
The 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.
INTERPRETATION
FMTLE 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;94:825-835.
Topics: Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Epilepsy, Temporal Lobe; Genome-Wide Association Study; Seizures, Febrile; Magnetic Resonance Imaging; Electroencephalography; Syndrome; Hippocampus
PubMed: 37597255
DOI: 10.1002/ana.26765 -
The Behavioral and Brain Sciences Nov 2023Déjà vu and involuntary autobiographical memories (IAMs) are differentiated by a number of factors including metacognition. In contrast to IAMs, déjà vu activates...
Déjà vu and involuntary autobiographical memories (IAMs) are differentiated by a number of factors including metacognition. In contrast to IAMs, déjà vu activates regions associated with self-awareness including the right dorsolateral prefrontal cortex.
Topics: Humans; Deja Vu; Brain; Perception; Metacognition
PubMed: 37961797
DOI: 10.1017/S0140525X23000201 -
The Behavioral and Brain Sciences Nov 2023In our target article, we presented the idea that involuntary autobiographical memories (IAMs) and déjà vu may both be based on the same retrieval processes. Our core...
In our target article, we presented the idea that involuntary autobiographical memories (IAMs) and déjà vu may both be based on the same retrieval processes. Our core claim was thus straightforward: Both can be described as "involuntary" or spontaneous cognitions, where IAMs deliver content and déjà vu delivers only the feeling of retrieval. Our proposal resulted in 27 commentaries covering a broad range of perspectives and approaches. The majority of them have not only amplified our key arguments but also pushed our ideas further by offering extensions, refinements, discussing possible implications and providing additional empirical, neuroscientific and clinical support. The discussion launched by the commentaries proves to us the importance of bringing IAMs and déjà vu into mainstream discussions of memory retrieval processes.
Topics: Humans; Memory, Episodic; Cognition; Emotions
PubMed: 37961810
DOI: 10.1017/S0140525X23002765 -
The British Journal of General Practice... 2021
Topics: Health Status Disparities; Humans
PubMed: 33632678
DOI: 10.3399/bjgp21X714941 -
AJR. American Journal of Roentgenology May 2015The purpose of this study is to evaluate the rate of duplicate publication in radiology journals. The secondary objective is to evaluate the sensitivity of iThenticate.
OBJECTIVE
The purpose of this study is to evaluate the rate of duplicate publication in radiology journals. The secondary objective is to evaluate the sensitivity of iThenticate.
MATERIALS AND METHODS
From January 1993 to December 2013, Déjà Vu (a database of highly similar citations) and PubMed were used to search for similar citations in 53 radiology journals. Citations were screened independently by two reviewers and verified by a third using predefined criteria to determine true cases of duplicate publication. The overall rate of duplicate publication was calculated; analysis of rate by journal, impact factor, and publication year was performed. The sensitivity of iThenticate was evaluated by analyzing all identified duplicate publications.
RESULTS
From 128,818 citations in the included journals, 1786 (Déjà Vu) and 104 (PubMed) were flagged as potential duplicates. Of these, 248 (226 from Déjà Vu and 22 from PubMed) were classified as true duplicate publications after application of our criteria. The overall rate was 1.92/1000 citations; it varied widely across journals from zero to over 10/1000 citations, showed no correlation with impact factor (R(2) = 0.06; p = 0.093), and no change over time (R(2) = 0.28; p = 0.515). iThenticate flagged 153 of 248 (61.9%) duplicates as "possible duplicates" (defined as overall percentage match > 30%) and identified the corresponding duplicate citation pair in 140 of 248 (56.7%) cases; in 98 of these, the duplicate citation pair was the highest percentage similarity match.
CONCLUSION
Duplicate publications in radiology journals are uncommon. The rate varies widely between journals, but was not associated with journal impact factor and did not change over time. iThenticate shows promise for identification of duplicate publications; however, refinements may be necessary to maximize its effectiveness.
Topics: Bibliometrics; Databases, Bibliographic; Duplicate Publications as Topic; Humans; MEDLINE; Radiology
PubMed: 25905964
DOI: 10.2214/AJR.14.13461 -
Stereotactic and Functional Neurosurgery 2023The advent of deep brain stimulation (DBS) of the subthalamic nucleus (STN) for Parkinson's disease 30 years ago has ushered a global breakthrough of DBS as a universal... (Review)
Review
BACKGROUND
The advent of deep brain stimulation (DBS) of the subthalamic nucleus (STN) for Parkinson's disease 30 years ago has ushered a global breakthrough of DBS as a universal method for therapy and research in wide areas of neurology and psychiatry. The literature of the last three decades has described numerous concepts and practices of DBS, often branded as novelties or discoveries. However, reading the contemporary publications often elicits a sense of déjà vu in relation to several methods, attributes, and practices of DBS. Here, we review various applications and techniques of the modern-era DBS and compare them with practices of the past.
SUMMARY
Compared with modern literature, publications of the old-era functional stereotactic neurosurgery, including old-era DBS, show that from the very beginning multidisciplinarity and teamwork were often prevalent and insisted upon, ethical concerns were recognized, brain circuitries and rational for brain targets were discussed, surgical indications were similar, closed-loop stimulation was attempted, evaluations of surgical results were debated, and controversies were common. Thus, it appears that virtually everything done today in the field of DBS bears resemblance to old-time practices, or has been done before, albeit with partly other tools and techniques. Movement disorders remain the main indications for modern DBS as was the case for lesional surgery and old-era DBS. The novelties today consist of the STN as the dominant target for DBS, the tremendous advances in computerized brain imaging, the sophistication and versatility of implantable DBS hardware, and the large potential for research.
KEY MESSAGES
Many aspects of contemporary DBS bear strong resemblance to practices of the past. The dominant clinical indications remain movement disorders with virtually the same brain targets as in the past, with one exception: the STN. Other novel brain targets - that are so far subject to DBS trials - are the pedunculopontine nucleus for gait freezing, the anteromedial internal pallidum for Gilles de la Tourette and the fornix for Alzheimer's disease. The major innovations and novelties compared to the past concern mainly the unmatched level of research activity, its high degree of sponsorship, and the outstanding advances in technology that have enabled multimodal brain imaging and the miniaturization, versatility, and sophistication of implantable hardware. The greatest benefit for patients today, compared to the past, is the higher level of precision and safety of DBS, and of all functional stereotactic neurosurgery.
Topics: Humans; Deep Brain Stimulation; Brain; Subthalamic Nucleus; Parkinson Disease; Globus Pallidus
PubMed: 37844558
DOI: 10.1159/000533430 -
Cortex; a Journal Devoted To the Study... Nov 2019Musicogenic epilepsy is rare focal epilepsy in which seizures are triggered by music. Both spontaneous and reflexes seizures may occur. To date there are limited data...
Musicogenic epilepsy is rare focal epilepsy in which seizures are triggered by music. Both spontaneous and reflexes seizures may occur. To date there are limited data about this epilepsy, particularly about its etiopathogenesis. We report the clinical, neurophysiological and imaging data about musicogenic epilepsy in a patient who underwent Stereo-electroencephalography (SEEG) study. A 27 year-old right-handed woman suffering from drug-resistant epilepsy since the age of 17 years, was evaluated for surgery. She had weekly seizures characterized by an unpleasant ascending gastric sensation, tachycardia, occasionally late oro-alimentary automatisms, déjà-vu and vomiting. Only during longer seizures a partial loss of awareness was reported. Interestingly, familiar songs triggered seizures. Rarely, she had spontaneous seizures with the same features. The ictal EEG onset appeared to be right temporal, but there was seizure propagation to suprasylvian areas. Brain MRI was negative. A SEEG implantation was performed to study the right temporo-perisylvian regions. SEEG data clearly indicated the antero-mesial temporal regions as origin of the seizures, without any spread to other close or distant cortical areas. Right temporal antero-mesial resection was performed 24 months ago and the patient is seizure-free since surgery. Neuropathology was uninformative. SEEG data highlighted the hypothesis regarding a temporo-mesial emotional-mnesic network triggered by particular music with an affective component for the patient. The primary auditory cortex and lateral mid-posterior temporal and extratemporal cortices were not involved. Different triggers as mentally singing and hearing the music can induce seizure as well as electrical stimulation in the mesial temporal structures.
Topics: Adult; Drug Resistant Epilepsy; Electroencephalography; Female; Humans; Magnetic Resonance Imaging; Music; Neurosurgical Procedures; Temporal Lobe; Treatment Outcome
PubMed: 30837152
DOI: 10.1016/j.cortex.2019.02.005 -
American Journal of Medical Genetics.... Jul 2023The sodium leak channel (NALCN) gene encodes a sodium leak channel that plays an important role in the regulation of the resting membrane potential and the control of...
The sodium leak channel (NALCN) gene encodes a sodium leak channel that plays an important role in the regulation of the resting membrane potential and the control of neuronal excitability. Mutations in the NALCN gene have been reported in patients with infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD syndrome). We describe the case of a father with drug-resistant left temporo-orbitofrontal epilepsy and his son with mildly-symptomatic temporal epilepsy (only recurrent déjà vu auras) whose genetic panels identified a likely pathogenic deletion of exon 27 on the NALCN gene. Our study helps broaden the clinical spectrum of diseases associated with mutations in the NALCN gene.
Topics: Humans; Ion Channels; Muscle Hypotonia; Epilepsy, Temporal Lobe; Sodium Channels; Epilepsy; Sodium; Membrane Proteins
PubMed: 37046053
DOI: 10.1002/ajmg.a.63209 -
Arthritis & Rheumatology (Hoboken, N.J.) May 2016
Topics: Biosimilar Pharmaceuticals
PubMed: 26748580
DOI: 10.1002/art.39568 -
Journal of Vascular Surgery Dec 2022
Topics: Humans; Plaque, Atherosclerotic
PubMed: 36410846
DOI: 10.1016/j.jvs.2022.07.186