Functional connectivity disturbances of ascending reticular activating system and posterior thalamus in juvenile myoclonic epilepsy in relation with photosensitivity: A resting-state fMRI study

Özçeli̇k, Emel Ur; Kurt, Elif; Şırın, Nermin Görkem; Eryürek, Kardelen; Ulasoglu-Yildiz, Cigdem; Hari, Emre; Ay, Ulaş; Bebek, Nerses; Demiralp, Tamer; Baykan, Betül

doi:10.1016/j.eplepsyres.2021.106569

Cited by 12 publications

(9 citation statements)

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“…During auto-segmentation, four patients with JME were excluded because of segmentation errors. From multiple segmentations of brain structures, 22 ROI masks were selected based on clinical evidence from previous JME imaging research: bilateral cerebral white matter [ 19 20 ], bilateral thalamus [ 7 21 ], bilateral caudate [ 22 23 ], bilateral putamen [ 7 24 ], bilateral globus pallidus [ 25 ], bilateral hippocampus [ 26 27 ], bilateral amygdala [ 9 28 ], bilateral ventral diencephalon [ 29 30 ], brainstem [ 31 ], and corpus callosum (anterior, mid-anterior, central, mid-posterior, and posterior) [ 32 33 ]. Their clinical relevance has been established through a review of published studies [ 34 35 ].…”

Section: Methodsmentioning

confidence: 99%

Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy

et al. 2022

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Objective Radiomic modeling using multiple regions of interest in MRI of the brain to diagnose juvenile myoclonic epilepsy (JME) has not yet been investigated. This study aimed to develop and validate radiomics prediction models to distinguish patients with JME from healthy controls (HCs), and to evaluate the feasibility of a radiomics approach using MRI for diagnosing JME. Materials and Methods A total of 97 JME patients (25.6 ± 8.5 years; female, 45.5%) and 32 HCs (28.9 ± 11.4 years; female, 50.0%) were randomly split (7:3 ratio) into a training (n = 90) and a test set (n = 39) group. Radiomic features were extracted from 22 regions of interest in the brain using the T1-weighted MRI based on clinical evidence. Predictive models were trained using seven modeling methods, including a light gradient boosting machine, support vector classifier, random forest, logistic regression, extreme gradient boosting, gradient boosting machine, and decision tree, with radiomics features in the training set. The performance of the models was validated and compared to the test set. The model with the highest area under the receiver operating curve (AUROC) was chosen, and important features in the model were identified. Results The seven tested radiomics models, including light gradient boosting machine, support vector classifier, random forest, logistic regression, extreme gradient boosting, gradient boosting machine, and decision tree, showed AUROC values of 0.817, 0.807, 0.783, 0.779, 0.767, 0.762, and 0.672, respectively. The light gradient boosting machine with the highest AUROC, albeit without statistically significant differences from the other models in pairwise comparisons, had accuracy, precision, recall, and F1 scores of 0.795, 0.818, 0.931, and 0.871, respectively. Radiomic features, including the putamen and ventral diencephalon, were ranked as the most important for suggesting JME. Conclusion Radiomic models using MRI were able to differentiate JME from HCs.

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Section: Methodsmentioning

confidence: 99%

Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy

et al. 2022

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“…For myoclonus, 11 articles were included. ( Wang et al, 2020 , Kim et al, 2019 , Yang et al, 2022 , Wang et al, 2019 , Jia et al, 2018 , Zhong et al, 2018 , Jiang et al, 2018 , Long et al, 2016 , Jiang et al, 2016 , Ur Özçelik et al, 2021 , Zhang et al, 2020 ) Patients were diagnosed with juvenile myoclonic epilepsy (JME; n = 9) and familial cortical myoclonic tremor with epilepsy (n = 2). Most patients were compared with age- and gender-matched healthy participants.…”

Section: Resultsmentioning

confidence: 99%

Altered brain connectivity in hyperkinetic movement disorders: A review of resting-state fMRI

Marapin

Horn

Stouwe

et al. 2023

NeuroImage: Clinical

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“…It was suggested recently that increased connectivity of the locus coeruleus is associated with photosensitivity in juvenile myoclonic epilepsy. 43 It is notable that a deficit in dopaminergic inhibitory neurotransmission has been described in generalized photosensitive epilepsy 44 and epileptic photosensitivity in progressive myoclonus epilepsies. 45 This further supports the association between photosensitive-related EEG abnormalities and dopamine deficiency in ASA.…”

Section: Discussionmentioning

confidence: 99%

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

et al. 2023

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Objective: Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide.Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency.Patients present with developmental delay, epilepsy, and movement disorder.Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria. Methods:We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of | 1613 ELKHATEEB et al. | INTRODUCTIONArgininosuccinate lyase (ASL) is the only enzyme in mammals enabling endogenous arginine synthesis. 1 This cytosolic enzyme, which breaks down argininosuccinic acid into arginine and fumarate, is integral to the citrulline-nitric oxide (NO) cycle, which enables NO synthesis from arginine, and the urea cycle, a liver-based pathway enabling nitrogen wasting through clearance of neurotoxic ammonia. 1 ASL deficiency causes argininosuccinic aciduria (ASA) (OMIM#207900), an autosomal recessive metabolic disease and the second most common urea cycle disorder with a prevalence of one in 110 000 live births. 2 Patients present acute hyperammonemia either in the neonatal period defined as early-onset phenotype, or later in life in late-onset presentation. 3 Most patients will present a multisystemic phenotype with chronic neurological, hepatic, and gastrointestinal conditions, and anemia and high blood pressure. 4 The neurological phenotype entails intellectual and motor disability, behavioral changes, and epilepsy, which can occur in the absence epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data.Results: Thirty-seven patients, 1-31 years of age, were included. Twenty-two patients (60%) presented with epilepsy. The median age at epilepsy onset was 24 months. Generalized tonic-clonic and focal seizures were most common in early-onset patients, whereas atypical absences were predominant in late-onset patients. Seventeen patients (77%) required antiseizure medications and six (27%) had pharmacoresistant epilepsy. Patients with epilepsy presented with a severe neurodebilitating disease with higher rates of speech delay (p = .04) and autism spectrum disorders (p = .01) and more frequent arginine supplementation (p = .01) compared to patients without epilepsy. Neonatal seizures were not associated with a higher risk of developing epilepsy. Biomarkers of ureagenesis did not differ between epileptic and non-epileptic patients. Epilepsy onset in early infancy (p = .05) and electroencephalographic background asymmetry (p = .0007) were significant predictors of partially controlled or refractory epilepsy.Significance: Epilepsy in argininosuccinic aciduria is frequent, polymorphic, and associated with more frequent neurodevelopmental comorbidities. We identified prognostic...

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Functional connectivity disturbances of ascending reticular activating system and posterior thalamus in juvenile myoclonic epilepsy in relation with photosensitivity: A resting-state fMRI study

Cited by 12 publications

References 50 publications

Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy

Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy

Altered brain connectivity in hyperkinetic movement disorders: A review of resting-state fMRI

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

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