Localizing and lateralizing value of auditory phenomena in seizures.

BACKGROUND: Auditory seizures (AS) are a rare type of focal seizures. AS are classically thought to involve a seizure onset zone (SOZ) in the temporal lobe, but there remain uncertainties about their localizing and lateralizing value. We conducted a narrative literature review with the aim of providing an up-to-date description of the lateralizing and localizing value of AS. METHODS: The databases PubMed, Scopus, and Google Scholar were searched for literature on AS in December 2022. All cortical stimulation studies, case reports, and case series were analyzed to assess for auditory phenomena that were suggestive of AS and to evaluate if the lateralization and/or localization of the SOZ could be determined. We classified AS according to their semiology (e.g., simple hallucination versus complex hallucination) and the level of evidence with which the SOZ could be predicted. RESULTS: A total of 174 cases comprising 200 AS were analyzed from 70 articles. Across all studies, the SOZ of AS were more often in the left (62%) than in the right (38%) hemisphere. AS heard bilaterally followed this trend. Unilaterally heard AS were more often due to a SOZ in the contralateral hemisphere (74%), although they could also be ipsilateral (26%). The SOZ for AS was not limited to the auditory cortex, nor to the temporal lobe. The areas more frequently involved in the temporal lobe were the superior temporal gyrus (STG) and mesiotemporal structures. Extratemporal locations included parietal, frontal, insular, and rarely occipital structures. CONCLUSION: Our review highlighted the complexity of AS and their importance in the identification of the SOZ. Due to the limited data and heterogeneous presentation of AS in the literature, the patterns associated with different AS semiologies warrant further research.

Sudden unexpected death in epilepsy (SUDEP): A bibliometric analysis.

OBJECTIVE: The literature on sudden unexpected death in epilepsy (SUDEP) has been evolving at a staggering rate. We conducted a bibliometric analysis of the SUDEP literature with the aim of presenting its structure, performance, and trends. METHODS: The Scopus database was searched in April 2023 for documents explicitly detailing SUDEP in their title, abstract, or keywords. After the removal of duplicate documents, bibliometric analysis was performed using the R package bibliometrix and the program VOSviewer. Performance metrics were computed to describe the literature's annual productivity, most relevant authors and countries, and most important publications. Science mapping was performed to visualize the relationships between research constituents by constructing a country collaboration network, co-authorship network, keyword co-occurrence network, and document co-citation network. RESULTS: A total of 2140 documents were analyzed. These documents were published from 1989 onward, with an average number of citations per document of 25.78. Annual productivity had been on the rise since 2006. Out of 6502 authors, five authors were in both the list of the ten most productive and the list of the ten most cited authors: Devinsky O, Sander JW, Tomson T, Ryvlin P, and Lhatoo SD. The USA and the United Kingdom were the most productive and cited countries. Collaborations between American authors and European authors were particularly rich. Prominent themes in the literature included those related to pathophysiology (e.g., cardiac arrhythmia, apnea, autonomic dysfunction), epilepsy characteristics (e.g., epilepsy type, refractoriness, antiseizure medications), and epidemiology (e.g., incidence, age, sex). Emerging themes included sleep, genetics, epilepsy refractoriness, and non-human studies. SIGNIFICANCE: The body of literature on SUDEP is rich, fast-growing, and benefiting from frequent international collaborations. Some research themes such as sleep, genetics, and animal studies have become more prevalent over recent years.

Guanine Nucleotide-Binding Protein-Like 1 (GNL1) binds RNA G-quadruplex structures in genes associated with Parkinson's disease.

RNAs are highly regulated at the post-transcriptional level in neurodegenerative diseases and just a few mutations can significantly affect the fate of neuronal cells. To date, the impact of G-quadruplex (G4) regulation in neurodegenerative diseases like Parkinson's disease (PD) has not been analysed. In this study, in silico potential G4s located in deregulated genes related to the nervous system were initially identified and were found to be significantly enriched. Several G4 sequences found in the 5' untranslated regions (5'UTR) of mRNAs associated with Parkinson's disease were demonstrated to in fact fold in vitro by biochemical assays. Subcloning of the full-length 5'UTRs of these candidates upstream of a luciferase reporter system led to the demonstration that the G4s of both Parkin RBR E3 Ubiquitin Protein Ligase (PRKN) and Vacuolar Protein Sorting-Associated Protein 35 (VPS35) significantly repressed the translation of both genes in SH-SY5Y cells. Subsequently, a strategy of using label-free RNA affinity purification assays with either of these two G4 sequences as bait isolated the Guanine Nucleotide-Binding Protein-Like 1 (GNL1). The latter was shown to have a higher affinity for the G4 sequences than for their mutated version. This study sheds light on new RNA G-quadruplexes located in genes dysregulated in Parkinson disease and a new G4-binding protein, GNL1.