ReviewFrontiers in cellular neuroscience2019
Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.
Review in Frontiers in cellular neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- A systematic review of resting-state and task-based fmri in juvenile myoclonic epilepsy.Brain imaging and behavior · 2022Pooled it
- Auditory gamma-band synchronization and attentional performance in juvenile myoclonic epilepsy.Epilepsia open · 2026Article
- Classification of neurocognitive impairment in pediatric drug-resistant focal epilepsy by quantifying seizure-affected brain network abnormalities in clinical diffusion-weighted imaging connectome.Clinical and experimental pediatrics · 2026Article
- Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology.Disease models & mechanisms · 2026Article
- Genetic Animal Models of Idiopathic Generalized Epilepsies: What Can We Learn from Them?Biomedicines · 2025Review
- Cognitive and brain health in juvenile myoclonic epilepsy: Role of social determinants of health.Epilepsia · 2025Article
- Gender and age variations in neuropsychiatric adverse events of cetirizine and levocetirizine: a disproportionality analysis of ICSRs from FAERS and EudraVigilance data.Frontiers in pharmacology · 2025Article
- Generation and Characterization of Three Novel Mouse Mutant Strains Susceptible to Audiogenic Seizures.Cells · 2024Article
- Inhibition of Calcium-Sensing Receptor Alleviates Chronic Intermittent Hypoxia-Induced Cognitive Dysfunction via CaSR-PKC-ERK1/2 Pathway.Molecular neurobiology · 2023Article
- The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population.European journal of human genetics : EJHG · 2023Article
- Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.Brain communications · 2023Review
- Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy.Korean journal of radiology · 2022Article
- Increased prevalence of minor physical anomalies in patients with epilepsy.Scientific reports · 2022Article
- Correlations Between Structural Brain Abnormalities, Cognition and Electroclinical Characteristics in Patients With Juvenile Myoclonic Epilepsy.Frontiers in neurology · 2022Article
- Parvalbumin Role in Epilepsy and Psychiatric Comorbidities: From Mechanism to Intervention.Frontiers in integrative neuroscience · 2022Review
- Effects of sevoflurane general anesthesia during early pregnancy on AIM2 expression in the hippocampus and parietal cortex of Sprague-Dawley offspring rats.Experimental and therapeutic medicine · 2021Article
- Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic generalized epilepsy syndromes. JME is characterized by awakening myoclonic jerks and myoclonic-tonic-clonic (m-t-c) grand mal convulsions. Unfortunately, one third of JME patients have drug refractory m-t-c convulsions and these recur in 70-80% who attempt to stop antiepileptic drugs (AEDs). Behavioral studies documented impulsivity, but also impairment of executive functions relying on organization and feedback, which points to prefrontal lobe dysfunction. Quantitative voxel-based morphometry (VBM) revealed abnormalities of gray matter (GM) volumes in cortical (frontal and parietal) and subcortical structures (thalamus, putamen, and hippocampus). Proton magnetic resonance spectroscopy (MRS) found evidence of dysfunction of thalamic neurons. White matter (WM) integrity was disrupted in corpus callosum and frontal WM tracts. Magnetic resonance imaging (MRI) further unveiled anomalies in both GM and WM structures that were already present at the time of seizure onset. Aberrant growth trajectories of brain development occurred during the first 2 years of JME diagnosis. Because of genetic origin, disease causing variants were sought, first by positional cloning, and most recently, by next generation sequencing. To date, only six genes harboring pathogenic variants
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