Causal Relationships Between Epilepsy, Anti-Epileptic Drugs, and Serum Vitamin D and Vitamin D Binding Protein: A Bidirectional and Drug Target Mendelian Randomization Study.

Aims: Previous studies suggest potential associations between epilepsy, anti-epileptic drugs (AEDs), and levels of vitamin D and vitamin D-binding protein (VDBP). This study aims to investigate the causal relationships among these variables using Mendelian Randomization (MR) methods.

Methods: Using summary data from genome-wide association studies on serum 25-hydroxyvitamin D [25(OH)D] levels (N = 417,580), VDBP concentrations (N = 65,589), and various types of epilepsy (Ncases = 27,559), MR analyses were conducted to determine bidirectional causal relationships among these variables.

Evidence of small vessel disease in patients with juvenile myoclonic epilepsy based on the peak width of skeletonized mean diffusivity.

Objectives: Peak width of skeletonized mean diffusivity (PSMD) is a novel marker of white matter changes probably due to small vessel disease. This study aimed to investigate the presence of white matter changes in juvenile myoclonic epilepsy (JME) using PSMD.

Methods: We enrolled patients with JME and age- and sex-matched healthy controls.

Assessing the Need for Repeat EEG in Pediatric Patients with Idiopathic Generalized Epilepsy After Anti-Seizure Medication Withdrawal Following Seizure Freedom.

Background: Most patients with idiopathic generalized epilepsy have good seizure control on antiseizure medications. Although idiopathic generalized epilepsy subtypes such as juvenile absence epilepsy and juvenile myoclonic epilepsy have a high risk of relapse, childhood absence epilepsy may have seizure remission. After 2 years of seizure freedom in childhood absence epilepsy, typically antiseizure medications are discontinued, but follow-up protocols are unclear.

Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis.

Objective: Juvenile myoclonic epilepsy (JME) is associated with large-scale brain network dysfunction. This study aims to investigate how anti-seizure medication (ASM) treatment alters resting-state functional networks in JME patients through resting-state EEG microstate analysis.

Methods: Ninety-six subjects participated in this study: 24 healthy controls (HC), 29 newly diagnosed JME patients who had not started ASMs therapy (JME-NM), and 43 JME patients on ASMs treatment with effective seizure control (JME-M).

Comparative analysis of processing speed impairments in TLE, FLE, and GGE: Theoretical insights and clinical Implications.

In this narrative review, we explore the differences in processing speed (PS) impairments among three epilepsy conditions; Temporal Lobe Epilepsy (TLE), Frontal Lobe Epilepsy (FLE) and Genetic Generalized Epilepsy (GGE) with a focus on Juvenile Myoclonic Epilepsy (JME). Despite the large body of research focusing on cognition in epilepsy, the intricacies of PS impairments in the epilepsy syndromes have not been fully explored. We investigate the cognitive profiles with focus on PS associated with each of the three conditions, and the neuropsychological methods employed.

Causal relationships between epilepsy and the microstructure of the white matter: A Mendelian randomization study.

To examine the causal bidirectional relationships between epilepsy and microstructural changes in the white matter (WM). A genome-wide association study meta-analysis of the International League Against Epilepsy Consortium on Epilepsy and 360 WM imaging-derived phenotypes (IDPs) from the UK Biobank was used for the analysis. Genetic correlation analyses were conducted based on summary statistics of various "IDP-epilepsy" pairs for 2-sample Mendelian randomization (MR) analysis to explore the causal relationships.

Latent cognitive phenotypes in juvenile myoclonic epilepsy: Clinical, sociodemographic, and neuroimaging associations.

Objective: Application of cluster analytic procedures has advanced understanding of the cognitive heterogeneity inherent in diverse epilepsy syndromes and the associated clinical and neuroimaging features. Application of this unsupervised machine learning approach to the neuropsychological performance of persons with juvenile myoclonic epilepsy (JME) has yet to be attempted, which is the intent of this investigation.

Methods: A total of 77 JME participants, 19 unaffected siblings, and 44 unrelated controls, 12 to 25 years of age, were administered a comprehensive neuropsychological battery (intelligence, language, memory, executive function, and processing speed), which was subjected to factor analysis followed by K-means clustering of the resultant factor scores.

Associations between neurolinguistic deficits and personality traits in people with epilepsy.

Introduction: People with epilepsy (PWE) have been hypothesized to have higher prevalence of personality disorders and cognitive disorders. The objective of this study was to investigate the controversial notion of "epileptic personality," a series of supposedly specific personality traits of people with epilepsy (PWE).

Methods: For this purpose, 29 individuals with Mesial Temporal lobe Epilepsy (MTLE) and 23 with Juvenile myoclonic epilepsy (JME) as confirmed by electroencephalography (EEG), MRI scans and clinical examination, underwent a thorough neuropsychological and personality assessment.

Restricted Cortical Activity Involving Parietal Lobe and Sublobar Region Leads to Generalized Spike-Wave Discharges of Juvenile Myoclonic Epilepsy: Evidence from an EEG Source Localization Study.

Background: Previous studies have localized the origin of "generalized" spike-wave discharges of idiopathic generalized epilepsies to specific brain regions. Although there are studies in juvenile myoclonic epilepsy (JME) which have investigated the origin of spike-wave discharges, reports on the propagation of discharges are sparse.

Objective: The current study investigated the propagation of spike-wave discharges in JME, which was investigated by statistically comparing the electroencephalography (EEG)-derived cortical source activity during (a) various phases of spike-wave discharge versus background (eyes closed) activity, and (b) various phases of the first spike wave versus the corresponding phase of subsequent spike waves.

Generalized spike-waves in idiopathic generalized epilepsies: Does their frequency matter?

Objectives: We hypothesized that the frequency (in Hertz) of generalized spike-waves (GSWs) in patients with idiopathic generalized epilepsy (IGE) has associations with the syndromic diagnosis as well as with the prognosis of patients (their response to medical treatment).

Methods: This was a retrospective study of a prospectively developed database. All patients with a diagnosis of IGE were studied at the epilepsy center at Shiraz University of Medical Sciences, Shiraz, Iran, from 2008 until 2022.

Quantitative MRI Measures and Cognitive Function in People With Drug-Resistant Juvenile Myoclonic Epilepsy.

Background And Objectives: Neuroimaging studies have so far identified structural changes in individuals with juvenile myoclonic epilepsy (JME) when compared with controls. However, the underlying mechanisms of drug-resistant JME remain unknown. In this study, we aimed at characterizing the structural underpinnings of drug-resistant JME using MRI-derived cortical morphologic markers.

Development and Validation of Artificial Intelligence Models for Prognosis Prediction of Juvenile Myoclonic Epilepsy with Clinical and Radiological Features.

Juvenile myoclonic epilepsy (JME) is a common adolescent epilepsy characterized by myoclonic, generalized tonic-clonic, and sometimes absence seizures. Prognosis varies, with many patients experiencing relapse despite pharmacological treatment. Recent advances in imaging and artificial intelligence suggest that combining microstructural brain changes with traditional clinical variables can enhance potential prognostic biomarkers identification.

Epilepsy associated with Graves' disease: Report of two cases.

We present two cases of epilepsy associated with Graves' disease. Case 1 is a 22-year-old woman. She had three epileptic seizures and was diagnosed with idiopathic generalized epilepsy.

An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.

Mutations in human (ciliogenesis associated kinase 1) are linked to ciliopathies and epilepsy. Homozygous point and nonsense mutations that extinguish kinase activity impair primary cilia function, whereas mutations outside the kinase domain are not well understood. Here, we produced a knock-in mouse equivalent to the human A615T variant identified in juvenile myoclonic epilepsy (JME).

Altered effective connectivity of the default mode network in juvenile myoclonic epilepsy.

Unlabelled: Juvenile myoclonic epilepsy (JME) is associated with brain dysconnectivity in the default mode network (DMN). Most previous studies of patients with JME have assessed static functional connectivity in terms of the temporal correlation of signal intensity among different brain regions. However, more recent studies have shown that the directionality of brain information flow has a more significant regional impact on patients' brains than previously assumed in the present study.

Causal links between serum micronutrients and epilepsy: a Mendelian randomization analysis.

Background: Micronutrient levels play a critical role in epilepsy. This study investigates the impact of micronutrient levels on epilepsy via Mendelian randomization (MR).

Methods: A two-sample MR framework evaluated the genetic association between 15 serum micronutrients and epilepsy phenotypes.