. Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epileptic syndrome, with a genetic basis clinically identified by myoclonic jerks of the upper limbs upon awaking, generalized tonic-clonic seizures and less frequent absences. Although the brain magnetic resonance imaging (MRI) is by definition normal, computer-based Voxel-Based morphometry studies have shown a number of volumetric changes in patients with juvenile myoclonic epilepsy. Thus, the aim of the present Voxel-Wise Meta-Analysis was to determine the most consistent regional differences of gray matter volume between JME patients and healthy controls. The initial search returned 31 studies. After excluding reviews and studies without control groups or without detailed peak coordinates, 12 studies were finally included in the present meta-analysis. The total number of JME patients was 325, and that of healthy controls was 357. Our study showed a statistically significant increase of the gray matter in the left median cingulate/paracingulate gyri, the right superior frontal gyrus, the left precentral gyrus, the right supplementary motor area and left supplementary motor area. It also showed a decrease in the gray matter volume in the left thalamus, and in the left insula. Our findings could be related to the functional deficits and changes described by previous studies in juvenile myoclonic epilepsy. In this way, the volumetric changes found in the present study could be related to the impaired frontal lobe functions, the emotional dysfunction and impaired pain empathy, and to the disrupted functional connectivity of supplementary motor areas described in JME. It additionally shows changes in the volume of the left thalamus, supporting the theory of thalamocortical pathways being involved in the pathogenesis of juvenile myoclonic epilepsy.
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http://dx.doi.org/10.3390/medicina57111136 | DOI Listing |
Cogn Neurodyn
December 2025
Department of Nuclear Magnetic Resonance, Lanzhou University Second Hospital, Lanzhou, 730030 China.
Unlabelled: Juvenile myoclonic epilepsy (JME) exhibits abnormal functional connectivity of brain networks at multiple frequencies. We used the multilayer network model to address the heterogeneous features at different frequencies and assess the mechanisms of functional integration and segregation of brain networks in JME patients. To address the possibility of false edges or missing edges during network construction, we combined multilayer networks with link prediction techniques.
View Article and Find Full Text PDFBiomedicines
December 2024
Neurology Department, Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", 16 Universitatii Street, 700115 Iasi, Romania.
Recent studies have described unique aspects of default mode network connectivity in patients with idiopathic generalized epilepsy (IGE). A complete background in this field could be gained by combining this research with spectral analysis. An important objective of this study was to compare linear connectivity and power spectral densities across different activity bands of patients with juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), generalized tonic-clonic seizures alone (EGTCSA), and drug-resistant IGE (DR-IGE) with healthy, age-matched controls.
View Article and Find Full Text PDFEpilepsia Open
December 2024
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Generalized epilepsy is classically thought of as a disease of the young and adolescent, with rarely reported cases among older adults. We aimed to analyze management and outcomes in a population sparsely described in the literature through a retrospective single-center cohort design. After excluding individuals without follow-up, we identified 151 people ≥50 years at the time of electrographically confirmed generalized epilepsy.
View Article and Find Full Text PDFEpilepsia
December 2024
Department of Neurology, Odense University Hospital, Odense, Denmark.
Objective: Idiopathic generalized epilepsy (IGE) in adults comprise juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with generalized tonic-clonic seizures alone (EGTCS), which are defined by their seizure types but also cover a broad endophenotype of symptoms. Controversy exists on whether adult IGE is a group of distinct diseases or a clinical spectrum of one disease. Here, we used a deeply phenotyped cohort to test the hypothesis that IGE comprises three distinct clinical entities.
View Article and Find Full Text PDFCase Rep Genet
December 2024
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Aichi, Japan.
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder caused by heterozygous pathogenic variants and is characterized by both progressive heterotopic ossification of the soft tissues and congenital malformations of the great toe. In addition to pathological skeletal metamorphosis, patients with FOP experience diverse neurological symptoms such as chronic pain and involuntary movements; however, little is known about the association between FOP and epileptic seizures. We report the case of a young boy with FOP who sustained multiple major fractures due to epileptic loss of consciousness.
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