ArticleBrain communications2022
Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: pathophysiology and diagnostic implications.
Article in Brain communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 26 citations in OpenAlex.
- Short-term sensorimotor practice reduces somatosensory temporal discrimination threshold and enhances somatosensory cortex excitability.Clinical neurophysiology practice · 2026Article
- The frequency-dependent effects of primary hand motor cortex stimulation on volitional finger movement.Clinical neurophysiology practice · 2026Article
- Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.Epilepsia · 2025Review
- Enhanced response inhibition in patients with drug-resistant juvenile myoclonic epilepsy: Event-related potentials evidence of excitatory-inhibitory imbalance.Epilepsia open · 2025Article
- Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.Journal of clinical medicine · 2025Review
- In vivo assessment of GABAergic inhibition and glutamate facilitation in treatment-resistant schizophrenia: a TMS study integrating clinical, cognitive, and neurophysiological evaluations.Schizophrenia (Heidelberg, Germany) · 2025Article
- Clinical efficacy of low-dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2.Epilepsia open · 2025Observational
- Changes in cerebellar output abnormally modulate cortical myoclonus sensorimotor hyperexcitability.Brain : a journal of neurology · 2024Article
- A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins.Clinical neurophysiology practice · 2024Review
- Review
- Familial Adult Myoclonic Epilepsy: Clinical and Genetic Approach to an Under-recognized Disease.Noro psikiyatri arsivi · 2023Review
- Effect of whole-hand water flow stimulation on the neural balance between excitation and inhibition in the primary somatosensory cortex.Frontiers in human neuroscience · 2022Article
- Focal vibrations enhance somatosensory facilitation in healthy subjects: A pilot study on EquistasiFrontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial adult myoclonic epilepsy type 2 is a hereditary condition characterized by cortical tremor, myoclonus and epilepsy. It belongs to the spectrum of cortical myoclonus and the sensorimotor cortex hyperexcitability represents an important pathogenic mechanism underlying this condition. Besides pericentral cortical structures, the impairment of subcortical networks seems also to play a pathogenetic role, mainly via the thalamo-cortical pathway. However, the mechanisms underlying cortical-subcortical circuits dysfunction, as well as their impact on clinical manifestations, are still unknown. Therefore, the main aims of our study were to systematically study with an extensive electrophysiological battery, the cortical sensorimotor, as well as thalamo-cortical networks in genetically confirmed familial adult myoclonic epilepsy patients and to establish reliable neurophysiological biomarkers for the diagnosis. In 26 familial myoclonic epilepsy subjects, harbouring the intronic ATTTC repeat expansion in the
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