ArticleEpilepsia2020
Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.
Article in Epilepsia, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- Progressive Changes in Brain Morphology in People With Idiopathic Generalized Epilepsy.Neurology · 2026Article
- Endophenotype Research in Epilepsy Across Time.Brain sciences · 2025Article
- Targeting ROCK2 to Restore Epileptic Synaptic Networks via Mitophagy Activation: Insights from Translational Imaging of SV2A In Vivo.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Increased volumes of the precuneus and the pallidum in idiopathic generalized epilepsy.Scientific reports · 2025Article
- Altered effective connectivity of the default mode network in juvenile myoclonic epilepsy.Cognitive neurodynamics · 2024Article
- Brain activation and connection across resting and motor-task states in patients with generalized tonic-clonic seizures.CNS neuroscience & therapeutics · 2024Article
- Exploring Cortical and Hippocampal Changes in Temporal Lobe Epilepsy Using Automated MRI Segmentation Techniques.International journal of general medicine · 2024Article
- Cognitive phenotype of juvenile absence epilepsy: An investigation of patients and unaffected siblings.Epilepsia · 2023Article
- Shared functional network abnormality in patients with temporal lobe epilepsy and their siblings.CNS neuroscience & therapeutics · 2023Article
- Differences in the distribution of triggers among resting state networks in patients with juvenile myoclonic epilepsy explained by network analysis.Frontiers in neuroscience · 2023Article
- Episodic memory network connectivity in temporal lobe epilepsy.Epilepsia · 2022Article
- Multimodal connectome biomarkers of cognitive and affective dysfunction in the common epilepsies.Network neuroscience (Cambridge, Mass.) · 2022Article
- Genetic generalized epilepsies in adults - challenging assumptions and dogmas.Nature reviews. Neurology · 2022Review
- Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives.Frontiers in molecular neuroscience · 2022Review
- Probabilistic mapping of thalamic nuclei and thalamocortical functional connectivity in idiopathic generalised epilepsy.Human brain mapping · 2021Article
- Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings.Neurology · 2021Article
- Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.International journal of molecular sciences · 2020Review
- Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.Epilepsia · 2020Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 6 countries.
Funding
Abstract
objectiveJuvenile myoclonic epilepsy (JME) is the most common genetic generalized epilepsy syndrome. Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Here, we aimed to (a) characterize activation profiles of the motor system during different cognitive tasks in patients with JME and their unaffected siblings, and (b) validate those as endophenotypes of JME.
methodsThis prospective cross-sectional investigation included 32 patients with JME, 12 unaffected siblings, and 26 controls, comparable for age, sex, handedness, language laterality, neuropsychological performance, and anxiety and depression scores. We investigated patterns of motor system activation during episodic memory encoding and verb generation functional magnetic resonance imaging (fMRI) tasks.
resultsDuring both tasks, patients and unaffected siblings showed increased activation of motor system areas compared to controls. Effects were more prominent during memory encoding, which entailed hand motion via joystick responses. Subgroup analyses identified stronger activation of the motor cortex in JME patients with ongoing seizures compared to seizure-free patients. Receiver-operating characteristic curves, based on measures of motor activation, accurately discriminated both patients with JME and their siblings from healthy controls (area under the curve: 0.75 and 0.77, for JME and a combined patient-sibling group against controls, respectively; P < .005). SIGNIFICANCE: Motor system hyperactivation represents a cognitive, domain-independent endophenotype of JME. We propose measures of motor system activation as quantitative traits for future genetic imaging studies in this syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.