Article
Clinical Neurology
Magnus Spangsberg Boesen, Malene Landbo Borresen, Soren Kirchhoff Christensen, Amalie Wandel Klein-Petersen, Sahla El Mahdaoui, Malini Vendela Sagar, Emilie Schou, Anna Korsgaard Eltvedt, Maria Jose Miranda, Alfred Peter Born, Peter Vilhelm Uldall, Lau Caspar Thygesen, Melita Cacic Hribljan
Summary: The study found that juvenile absence epilepsy and juvenile myoclonic epilepsy had slightly poorer school performance compared to the control group, with absence epilepsy having an increased risk for special education needs. Both types of epilepsy patients had higher use of sleep medication.
JOURNAL OF NEUROLOGY
(2022)
Article
Health Care Sciences & Services
Siew-Na Lim, Tony Wu, Wei-En Johnny Tseng, Chun-Wei Chang, Hsiang-Yao Hsieh, Mei-Yun Cheng, Hsing- Chiang, Chih-Hong Lee, Wey-Ran Lin, Chun-Jing Liu
Summary: This study aimed to investigate the clinical and social features of patients with juvenile myoclonic epilepsy (JME) and determine the factors associated with outcomes. The findings showed that despite optimal treatment with antiseizure medications, a considerable proportion of JME patients did not achieve seizure freedom. The presence of epileptiform discharges and seizures during sleep were significantly associated with worse seizure outcomes, and seizure-free patients had a higher employment rate compared to those with ongoing seizures.
Article
Clinical Neurology
Ali A. Asadi-Pooya, Mahtab Rostamihosseinkhani, Mohsen Farazdaghi
Summary: This study investigated the seizure and social outcomes of patients with juvenile myoclonic epilepsy (JME) and found that JME at tertiary referral centers is not as benign as previously suggested. The employment status of JME patients is significantly worse compared to the general population. However, most JME patients have marital status and educational levels comparable to the general public.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Clinical Neurology
Akiko Hiraiwa, Yu Kobayashi, Moemi Hojo, Jun Tohyama
Summary: The aim of this study was to investigate the timing of generalized electroencephalographic abnormalities prior to the onset of juvenile myoclonic epilepsy. The researchers enrolled patients who had been observed for a minimum of 5 years before the onset of the epilepsy, had undergone at least two EEG recordings prior to the onset, and had discontinued seizure medications for 2 years or more. Patients who transitioned from childhood absence epilepsy were excluded. The study found that patients with juvenile myoclonic epilepsy showed generalized electroencephalographic abnormality many years before the onset of symptoms, suggesting that generalized spike-waves on the EEG may be a risk factor for developing this epilepsy.
EPILEPTIC DISORDERS
(2023)
Article
Clinical Neurology
Ali A. Asadi-Pooya, Mohsen Farazdaghi
Summary: This study applied Two-step cluster analysis on a large dataset of patients with juvenile myoclonic epilepsy (JME) to identify distinct subgroups with similar clinical characteristics and evaluate the differences in seizure outcomes between these clusters. The analysis revealed two homogeneous clusters of patients with JME and demonstrated that the response to treatment at 12 months differed between these clusters.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2023)
Article
Neurosciences
Laiyang Ma, Guangyao Liu, Pengfei Zhang, Jun Wang, Wenjing Huang, Yanli Jiang, Yu Zheng, Na Han, Zhe Zhang, Jing Zhang
Summary: This study found significant differences in connectivity between the cerebrum and cerebellum in JME patients compared to healthy controls, with disruptions primarily in the direction of EC from the cerebellum to the cerebrum. The negative correlation between EC and disease severity may provide insights into the underlying neural circuit mechanisms in JME.
Article
Neurosciences
Dadong Luo, Yaqing Liu, Ningning Zhang, Tiancheng Wang
Summary: The study found that there were dynamic changes in the functional connectivity and node importance of brain regions in patients with JME during their resting state. Abnormal discharges originating from specific brain regions are more likely to lead to seizures in JME patients. The low betweenness centrality of the prefrontal and visual cortices explains why visual stimulation or increased cognitive load can induce epileptic symptoms in only some patients with JME.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Medicine, General & Internal
Yongning Jiang, Xiangqin Zhou
Summary: This study analyzed the onset, clinical features, and EEG characteristics of myoclonic epilepsy in infancy (MEI). The study found that the onset of MEI can manifest as either atypical or typical seizures, but there were no significant differences in clinical or EEG features between the two groups. All patients were successfully treated with valproic acid monotherapy, and had normal psychomotor development at the end of the follow-up period.
Article
Neurosciences
Priyanka Sinha, Bhupender Verma, Subramaniam Ganesh
Summary: Brain aging is characterized by a decline in cellular homeostatic processes, leading to a decreased ability to respond to physiological stress. The aged brain shows physical changes such as degenerating neurons, proteinaceous plaques and tangles, intracellular deposition of glycogen, and elevated neuroinflammation, which are also seen in neurodegenerative disorders. In this study, the authors demonstrate that the expression level of genes implicated in progressive myoclonus epilepsy (PME) decreases with age, resulting in compromised neuronal response and increased susceptibility to seizures. Furthermore, they show that suppressing neuroinflammation can improve seizure susceptibility in both aged animals and animal models of PME.
MOLECULAR NEUROBIOLOGY
(2022)
Article
Clinical Neurology
Tommy Stodberg, Torbjorn Tomson, Britt-Marie Anderlid, Tomas Andersson, Olivia Henry, Per Amark, Anna Wedell
Summary: Infantile-onset epilepsy carries a worse prognosis, with only half of the children achieving seizure remission and the other half having intellectual disability. Etiology is a major predictor of outcome.
Article
Behavioral Sciences
Dong Ah Lee, Junghae Ko, Ho-Joon Lee, Hyung Chan Kim, Bong Soo Park, Sihyung Park, Il Hwan Kim, Jin Han Park, Yoo Jin Lee, Kang Min Park
Summary: The study found no significant volume differences in the nuclei of the amygdala and hippocampal subfields between patients with JME and healthy controls. However, there were significant differences in the global network, with decreased mean clustering coefficient in JME patients. Specific regions in the hippocampal subfields also showed increased betweenness centrality in patients with JME compared to healthy controls.
BRAIN AND BEHAVIOR
(2021)
Article
Neurosciences
Anatolie Vataman, Dumitru Ciolac, Vitalie Chiosa, Daniela Aftene, Pavel Leahu, Yaroslav Winter, Stanislav A. Groppa, Gabriel Gonzalez-Escamilla, Muthuraman Muthuraman, Sergiu Groppa
Summary: In this study, the temporal and spatial organization of functional networks and their dynamic properties in juvenile myoclonic epilepsy (JME) patients were characterized using high-density EEG (hdEEG) recordings and MRI data. It was found that the flexibility and controllability of network modules exhibit antagonistic dynamics during SWD generation in JME. The flexibility and controllability of the fronto-temporal module were found to be related to seizure frequency and cognitive performance in JME patients. These findings have implications for the diagnosis and treatment of JME.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Clinical Neurology
Neeraj Baheti, Chaturbhuj Rathore, Atma Ram Bansal, Saumya Shah, Hari Kunhi Veedu, Sanjay Prakash, Kalyani Kanhere, Shyam K. Jaiswal, Anis Jukkarwala, Jagarlapudi M. K. Murthy, Kurupath Radhakrishnan
Summary: Seizure freedom can be achieved in two-thirds of patients with DRJME. A combination of valproate and lamotrigine is the most effective duotherapy.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Article
Clinical Neurology
Joanna Gesche, Sussie Antonson, Julie Werenberg Dreier, Jakob Christensen, Christoph Patrick Beier
Summary: Patients with idiopathic/genetic generalized epilepsies (IGEs) have lower social status, education level, income, and employment rate, as well as a higher proportion of psychiatric comorbidity, compared to matched population controls. Among different IGE subtypes, juvenile myoclonic epilepsy (JME) patients show the poorest social status, while patients with epilepsy with generalized tonic-clonic seizures alone (EGTCS) and juvenile absence epilepsy (JAE) do not show adverse social outcomes. Poor seizure control is associated with negative socioeconomic consequences related to IGE.
Article
Multidisciplinary Sciences
Nicholas Valassina, Simone Brusco, Alessia Salamone, Linda Serra, Mirko Luoni, Serena Giannelli, Simone Bido, Luca Massimino, Federica Ungaro, Pietro Giuseppe Mazzara, Patrizia D'Adamo, Gabriele Lignani, Vania Broccoli, Gaia Colasante
Summary: The study demonstrates that reactivating the SCN1A gene in individuals with Dravet syndrome can rescue spontaneous and thermic inducible seizures, improve behavioral abnormalities, and normalize brain activity. These findings provide solid evidence for the reversibility of the disease phenotype.
NATURE COMMUNICATIONS
(2022)