scholarly journals The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy

2021 ◽  
Vol 11 (2) ◽  
pp. 127-135
Author(s):  
Young Jun Ko ◽  
Il Han Yoo ◽  
Jiwon Lee ◽  
Jeehun Lee ◽  
Mi-Sun Yum ◽  
...  
Keyword(s):  
Steady State ◽  
Focal Epilepsy ◽  
Disease Onset ◽  
Genetic Diagnosis ◽  
Dravet Syndrome ◽  
Focal Seizures ◽  
Epileptiform Discharges ◽  
Scn1a Mutation ◽  
Video Eeg

Background and Purpose: This study was aimed to describe focal epilepsy features of SCN1A mutation-positive Dravet syndrome patients.Methods: A total of 82 SCN1A mutation-positive patients were reviewed retrospectively (39 boys and 43 girls). Seizure type and electroencephalography (EEG) findings were investigated according to the stage, disease onset, and steady state (after age 2 years). Long-term video EEG data were used to classify the seizure type.Results: Focal seizures at onset and the steady state were found in 54.9% (45/82) and 90% (63/70) of patients, respectively. Afebrile focal seizures were an initial seizure in about one fourth of the patients (22/82, 26.8%). Of 48 seizures captured during long-term video EEG monitoring of 30 patients, 19 seizures were classified as focal onset (39.6%). Of the 19 focal seizures, 12 were either focal motor or focal non-motor seizures, and seven were focal onset bilateral tonic-clonic seizure. Focal epileptiform discharges were more frequent than generalized epileptiform discharges at seizure onset and during the clinical course on conventional EEG (3.7% vs. 0%, 52.9% vs. 32.9%, respectively).Conclusions: Our study provides a comprehensive description of focal epilepsy features of SCN1A mutation-positive Dravet syndrome patients. Recognizing these features as defining the clinical spectrum of Dravet syndrome may lead to earlier genetic diagnosis and tailored management.

scholarly journals The first-hour-of-the-day sleep EEG reliably identifies interictal epileptiform discharges during long-term video-EEG monitoring

Seizure ◽  
2018 ◽  
Vol 63 ◽  
pp. 48-51 ◽  
Author(s):  
Xi Liu ◽  
Naoum P. Issa ◽  
Sandra Rose ◽  
Shasha Wu ◽  
Taixin Sun ◽  
...  
Keyword(s):  
Sleep Eeg ◽  
Eeg Monitoring ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Video Eeg

scholarly journals The long-term course of temporal lobe epilepsy: From unilateral to bilateral interictal epileptiform discharges in repeated video-EEG monitorings

2017 ◽  
Vol 68 ◽  
pp. 17-21 ◽  
Author(s):  
Stephanie Gollwitzer ◽  
Catherine A. Scott ◽  
Fiona Farrell ◽  
Gail S. Bell ◽  
Jane de Tisi ◽  
...  
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Video Eeg

scholarly journals Shall we treat patients with benign epileptiform discharges of childhood without epileptic seizures?

2019 ◽  
Vol 14 (1) ◽  
pp. 7-13
Author(s):  
N. A. Ermolenko ◽  
I. S. Bakhtin ◽  
I. A. Buchneva
Keyword(s):  
Focal Epilepsy ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Healthy Children ◽  
Epileptiform Discharges ◽  
First Choice ◽  
Long Term Follow Up ◽  
Potential Risks

Benign epileptiform discharges of childhood are age-dependent electroencephalogram patterns associated with idiopathic benign focal epilepsy. Multiple studies have demonstrated that focal epileptiform discharges can be registered in patients without any clinical manifestations of epilepsy. Long-term follow-up of clinically healthy children with benign epileptiform discharges of childhood on electroencephalogram demonstrated that 14 % of them developed epileptic seizures with age and 50 % developed various cognitive and behavioral disorders. The question of whether or not to treat such patients (with benign epileptiform discharges of childhood on electroencephalogram but without epileptic seizure) is still being widely discussed. Individual decision making with the consideration of potential risks and benefits for a patient is preferable in this case. Valproic acid is the drug of first choice in these patients.

scholarly journals Critical slowing as a biomarker for seizure susceptibility

2019 ◽  
Author(s):  
Matias I. Maturana ◽  
Christian Meisel ◽  
Katrina Dell ◽  
Philippa J. Karoly ◽  
Wendyl D’Souza ◽  
...  
Keyword(s):  
Focal Epilepsy ◽  
Warning Signal ◽  
Theoretical Models ◽  
Critical Transitions ◽  
Epileptiform Discharges ◽  
Brain Signals ◽  
Change State ◽  
Intracranial Electroencephalography ◽  
The Brain

AbstractThe human brain has the capacity to rapidly change state, and in epilepsy these state changes can be catastrophic, resulting in loss of consciousness, injury and even death. Theoretical interpretations considering the brain as a dynamical system would suggest that prior to a seizure recorded brain signals may exhibit critical slowing, a warning signal preceding many critical transitions in dynamical systems. Using long-term intracranial electroencephalography (iEEG) recordings from fourteen patients with focal epilepsy, we found key signatures of critical slowing prior to seizures. Signals related to a critically slowing process fluctuated over temporally long scales (hours to days), longer than would be detectable in standard clinical evaluation settings. Seizure risk was associated with a combination of these signals together with epileptiform discharges. These results provide strong validation of theoretical models and demonstrate that critical slowing is a reliable indicator that could be used in seizure forecasting algorithms.

Dramatic Onset of Focal Seizures: Differentiating Structural Focal Epilepsy from Ring Chromosome 20

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Herting ◽  
T. Cloppenborg ◽  
A. Hofmann-Peters ◽  
T. Polster
Keyword(s):  
Focal Epilepsy ◽  
Ring Chromosome ◽  
Focal Seizures ◽  
Chromosome 20

scholarly journals Synaptic Reshaping and Neuronal Outcomes in the Temporal Lobe Epilepsy

2021 ◽  
Vol 22 (8) ◽  
pp. 3860
Author(s):  
Elisa Ren ◽  
Giulia Curia
Keyword(s):  
Animal Models ◽  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Current Knowledge ◽  
Focal Epilepsy ◽  
Ex Vivo ◽  
Hippocampal Sclerosis ◽  
Control Group ◽  
Epileptogenic Zone ◽  
Epileptiform Discharges

Temporal lobe epilepsy (TLE) is one of the most common types of focal epilepsy, characterized by recurrent spontaneous seizures originating in the temporal lobe(s), with mesial TLE (mTLE) as the worst form of TLE, often associated with hippocampal sclerosis. Abnormal epileptiform discharges are the result, among others, of altered cell-to-cell communication in both chemical and electrical transmissions. Current knowledge about the neurobiology of TLE in human patients emerges from pathological studies of biopsy specimens isolated from the epileptogenic zone or, in a few more recent investigations, from living subjects using positron emission tomography (PET). To overcome limitations related to the use of human tissue, animal models are of great help as they allow the selection of homogeneous samples still presenting a more various scenario of the epileptic syndrome, the presence of a comparable control group, and the availability of a greater amount of tissue for in vitro/ex vivo investigations. This review provides an overview of the structural and functional alterations of synaptic connections in the brain of TLE/mTLE patients and animal models.

scholarly journals Bone mineral density and explanatory factors in children and adults with juvenile dermatomyositis at long term follow-up; a cross sectional study

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Henriette Schermacher Marstein ◽  
Kristin Godang ◽  
Berit Flatø ◽  
Ivar Sjaastad ◽  
Jens Bollerslev ◽  
...  
Keyword(s):  
Bone Turnover ◽  
Inflammatory Markers ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Disease Onset ◽  
Whole Body ◽  
Mineral Density ◽  
Z Scores

Abstract Background Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children and adolescents. Both the disease and its treatment with glucocorticoids may negatively impact bone formation. In this study we compare BMD in patients (children/adolescence and adults) with long-standing JDM with matched controls; and in patients, explore how general/disease characteristics and bone turnover markers are associated with BMD. Methods JDM patients (n = 59) were examined median 16.8y (range 6.6–27.0y) after disease onset and compared with 59 age/sex-matched controls. Dual-energy X-ray absorptiometry (DXA) was used to measure BMD of the whole body and lumbar spine (spine) in all participants, and of ultra-distal radius, forearm and total hip in participants ≥20y only. Markers of bone turnover were analysed, and associations with outcomes explored. Results Reduced BMD Z-scores (<−1SD) were found in 19 and 29% of patients and 7 and 9% of controls in whole body and spine, respectively (p-values < 0.05). BMD and BMD Z-scores for whole body and spine were lower in all patients and for < 20y compared with their respective controls. In participants ≥20y, only BMD and BMD Z-score of forearm were lower in the patients versus controls. In patients, BMD Z-scores for whole body and/or spine were found to correlate negatively with prednisolone use at follow-up (yes/no) (age < 20y), inflammatory markers (age ≥ 20y) and levels of interferon gamma-induced protein 10 (IP-10) (both age groups). In all patients, prednisolone use at follow-up (yes/no) and age ≥ 20y were independent correlates of lower BMD Z-scores for whole body and spine, respectively. Conclusion In long-term JDM, children have more impairment of BMD than adults in spine and whole-body. Associations with BMD were found for both prednisolone and inflammatory markers, and a novel association was discovered with the biomarker of JDM activity, IP-10.

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