scholarly journals DIFFICULTIES OF EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY-9 DIAGNOSTIC

2019 ◽  
pp. 24-30
Author(s):  
A. G. Malov ◽  
M. I. Vshivkov ◽  
M. A. Mamunts
Keyword(s):  
Structural Changes ◽  
Focal Epilepsy ◽  
Correct Diagnosis ◽  
Hereditary Disease ◽  
Epileptic Activity ◽  
Epileptic Encephalopathy ◽  
Genetic Examination ◽  
Convulsive Seizures ◽  
The Brain

Introduction: Early infantile epileptic encephalopathy (EIEE) is a group of monogenic epilepsies which are caused by mutations in more than 70 genes. Material and methods: The data of a long-term dynamic EEG observation of a girl with EIEE9 (OMIM 300088) caused by a mutation in the PCDH19 gene (OMIM 300460) are presented. Results: Correct etiological diagnosis of the hereditary disease was established only at the age of 14 years. Epilepsy debuted at the age of 8 months as a series of one minute long generalized tonic convulsions with myoclonia in the left arm. After further examination the symptoms were mistakenly regarded as viral encephalitis. Subsequently, clusters of convulsive seizures provoked by febrile states periodically were occurring several times per year irrespective of the type and amount of anticonvulsants taken. Despite the fact, that no significant structural changes in the brain we found during neuroimaging, pharmacoresistant focal epilepsy gradually developed. At the age of 14 years, as part of a pre-surgical examination for two days, the complete abolition of anticonvulsants and the implantation of subdural electrodes were performed. Focal motor seizures with a transition to bilateral tonic-clonic seizures were recorded, during which the primary generation of epileptic activity was localized in the left temporal lobe. А thorough examination with a clarification of the monogenic origin of the disease made it possible to avoid undue surgery on the brain. Discussion: The presented observation is a clear example of why a timely genetic examination is important for establishing correct diagnosis, adequate selection of anticonvulsants and a making a right decision on the possibility of surgical treatment.

scholarly journals Detection of epileptic activity in presumably normal EEG

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Sara Baldini ◽  
Francesca Pittau ◽  
Gwenael Birot ◽  
Vincent Rochas ◽  
Miralena I Tomescu ◽  
...  
Keyword(s):  
Focal Epilepsy ◽  
Epileptic Activity ◽  
Scalp Eeg ◽  
Vigilance State ◽  
Explained Variance ◽  
Long Term Monitoring ◽  
Interictal Discharges ◽  
The Individual ◽  
Term Monitoring

Abstract Monitoring epileptic activity in the absence of interictal discharges is a major need given the well-established lack of reliability of patients’ reports of their seizures. Up to now, there are no other tools than reviewing the seizure diary; however, seizures may not be remembered or dismissed voluntarily. In the present study, we set out to determine if EEG voltage maps of epileptogenic activity in individual patients can help to identify disease activity, even if their scalp EEG appears normal. Twenty-five patients with pharmacoresistant focal epilepsy were included. For each patient, 6 min of EEG with spikes (yes-spike) and without visually detectable epileptogenic discharges (no-spike) were selected from long-term monitoring recordings (EEG 31–37 channels). For each patient, we identified typical discharges, calculated their average and the corresponding scalp voltage map (‘spike-map’). We then fitted the spike-map for each patient on their (i) EEG epochs with visible spikes, (ii) epochs without any visible spike and (iii) EEGs of 48 controls. The global explained variance was used to estimate the presence of the spike-maps. The individual spike-map occurred more often in the spike-free EEGs of patients compared to EEGs of healthy controls (P = 0.001). Not surprisingly, this difference was higher if the EEGs contained spikes (P < 0.001). In patients, spike-maps were more frequent per second (P < 0.001) but with a shorter mean duration (P < 0.001) than in controls, for both no-spike and yes-spike EEGs. The amount of spike-maps was unrelated to clinical variables, like epilepsy severity, drug load or vigilance state. Voltage maps of spike activity are present very frequently in the scalp EEG of patients, even in presumably normal EEG. We conclude that spike-maps are a robust and potentially powerful marker to monitor subtle epileptogenic activity.

Role of the GABAA receptors in the long-term cognitive impairments caused by neonatal sevoflurane exposure

2019 ◽  
Vol 30 (8) ◽  
pp. 869-879 ◽  
Author(s):  
Tao Li ◽  
Zeyi Huang ◽  
Xianwen Wang ◽  
Ju Zou ◽  
Sijie Tan
Keyword(s):  
Structural Changes ◽  
Cognitive Impairments ◽  
Elevated Serum ◽  
Developmental Abnormalities ◽  
Inhalational Anesthetic ◽  
Excitatory Gaba ◽  
Hpa Axis Activity ◽  
The Brain

Abstract Sevoflurane is a widely used inhalational anesthetic in pediatric surgeries, which is considered reasonably safe and reversible upon withdrawal. However, recent preclinical studies suggested that peri-neonatal sevoflurane exposure may cause developmental abnormalities in the brain. The present review aimed to present and discuss the accumulating experimental data regarding the undesirable effects of sevoflurane on brain development as revealed by the laboratory studies. First, we summarized the long-lasting side effects of neonatal sevoflurane exposure on cognitive functions. Subsequently, we presented the structural changes, namely, neuroapoptosis, neurogenesis and synaptogenesis, following sevoflurane exposure in the immature brain. Finally, we also discussed the potential mechanisms underlying subsequent cognitive impairments later in life, which are induced by neonatal sevoflurane exposure and pointed out potential strategies for mitigating sevoflurane-induced long-term cognitive impairments. The type A gamma-amino butyric acid (GABAA) receptor, the main targets of sevoflurane, is excitatory rather than inhibitory in the immature neurons. The excitatory effects of the GABAA receptors have been linked to increased neuroapoptosis, elevated serum corticosterone levels and epigenetic modifications following neonatal sevoflurane exposure in rodents, which might contribute to sevoflurane-induced long-term cognitive abnormalities. We proposed that the excitatory GABAA receptor-mediated HPA axis activity might be a novel mechanism underlying sevoflurane-induced long-term cognitive impairments. More studies are needed to investigate the effectiveness and mechanisms by targeting the excitatory GABAA receptor as a prevention strategy to alleviate cognitive deficits induced by neonatal sevoflurane exposure in future.

scholarly journals Therapeutic Use of the Ketogenic Diet in Refractory Epilepsy: What We Know and What Still Needs to Be Learned

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2616
Author(s):  
Iwona Maria Zarnowska
Keyword(s):  
Ketogenic Diet ◽  
Refractory Epilepsy ◽  
Epileptic Activity ◽  
Clinical Settings ◽  
Modified Atkins Diet ◽  
Current State ◽  
Wide Range ◽  
Low Carbohydrate ◽  
The Brain

Ketogenic diet (KD) has been used to treat epilepsy for 100 years. It is a high-fat, low-carbohydrate, and sufficient-protein-for-growth diet that mimics the metabolic changes occurring during starvation. Except for classic KD, its modified counterparts, including modified Atkins diet and low-glycemic-index treatment, have gained grounds to increase palatability and adherence. Strong evidence exists that the KD offers protection against seizures in difficult-to-treat epilepsy and possesses long-lasting anti-epileptic activity, improving long-term disease outcome. The KD can also provide symptomatic and disease-modifying activity in a wide range of neurodegenerative diseases. In an era of highly available new anti-seizure medications (ASMs), the challenge of refractory epilepsy has still not been solved. This metabolic therapy is increasingly considered due to unique mechanisms and turns out to be a powerful tool in the hands of a skillful team. Despite decades of extensive research to explain the mechanism of its efficacy, the precise mechanism of action is to date still largely unknown. The key feature of this successful diet is the fact that energy is derived largely from fat but not from carbohydrates. Consequently, fundamental change occurs regarding the method of energy production that causes alterations in numerous biochemical pathways, thus restoring energetic and metabolic homeostasis of the brain. There are barriers during the use of this special and individualized therapy in many clinical settings worldwide. The aim of this review is to revisit the current state of the art of therapeutic application of KD in refractory epilepsy.

Automated long-term two-photon imaging in head-fixed walking Drosophila

2021 ◽  
Author(s):  
Andres Flores Valle ◽  
Rolf Honnef ◽  
Johannes D. Seelig
Keyword(s):  
Structural Changes ◽  
Long Term Memory ◽  
Head Direction ◽  
Multiple Timescales ◽  
Two Photon ◽  
Photon Imaging ◽  
Two Photon Imaging ◽  
Millisecond Range ◽  
The Brain

The brain of Drosophila shows dynamics at multiple timescales, from the millisecond range of fast voltage or calcium transients to functional and structural changes occurring over multiple days. To relate such dynamics to behavior requires monitoring neural circuits across these multiple timescales in behaving animals. Here, we develop a technique for automated long-term two-photon imaging in fruit flies, during wakefulness and sleep, navigating in virtual reality over up to seven days. The method is enabled by laser surgery, a microrobotic arm for controlling forceps for dissection assistance, an automated feeding robot, as well as volumetric, simultaneous multiplane imaging. The approach is validated in the fly's head direction system. Imaging in behaving flies over multiple timescales will be useful for understanding circadian activity, learning and long-term memory, or sleep.

Long-term brain network reorganization predicts responsive neurostimulation outcomes for focal epilepsy

2021 ◽  
Vol 13 (608) ◽  
pp. eabf6588
Author(s):  
Ankit N. Khambhati ◽  
Alia Shafi ◽  
Vikram R. Rao ◽  
Edward F. Chang
Keyword(s):  
Therapeutic Response ◽  
Focal Epilepsy ◽  
Therapeutic Benefit ◽  
Brain Network ◽  
First Year ◽  
Seizure Reduction ◽  
Neural Recordings ◽  
Brain Network Reorganization ◽  
The Brain

Responsive neurostimulation (RNS) devices, able to detect imminent seizures and to rapidly deliver electrical stimulation to the brain, are effective in reducing seizures in some patients with focal epilepsy. However, therapeutic response to RNS is often slow, is highly variable, and defies prognostication based on clinical factors. A prevailing view holds that RNS efficacy is primarily mediated by acute seizure termination; yet, stimulations greatly outnumber seizures and occur mostly in the interictal state, suggesting chronic modulation of brain networks that generate seizures. Here, using years-long intracranial neural recordings collected during RNS therapy, we found that patients with the greatest therapeutic benefit undergo progressive, frequency-dependent reorganization of interictal functional connectivity. The extent of this reorganization scales directly with seizure reduction and emerges within the first year of RNS treatment, enabling potential early prediction of therapeutic response. Our findings reveal a mechanism for RNS that involves network plasticity and may inform development of next-generation devices for epilepsy.

scholarly journals DIAGNOSTIC ERRORS DURING INTRAMEDULLAR PROCESSES

2019 ◽  
Vol 72 (1) ◽  
pp. 129-132
Author(s):  
Kateryna Tarianyk ◽  
Natalia Lytvynenko ◽  
Tetiana Purdenko ◽  
Viktoriia Hladka
Keyword(s):  
Spinal Cord ◽  
Malignant Tumor ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Spinal Cord Tumor ◽  
Diagnostic Errors ◽  
Diagnostic Approaches ◽  
Brain And Spinal Cord ◽  
The Brain

Introduction: The article describes a clinical case of a malignant tumor of the brain and spinal cord with metastasis, which remained undetected for many years and was treated as syringomyelia. Long-term exhausting examinations of the brain and spinal cord, dynamic follow-up of medical specialists, and repeated surgical interventions on the spine helped to differentiate this process and make the correct diagnosis. The aim: The objectives of the present paper are to analyze the existing classifications of syringomyelia; to examine its etiology, pathogenesis, diagnostic approaches and treatment tactics; to present a clinical case of a malignant tumor of the brain and spinal cord with metastasis, which was misdiagnosed as syringomyelia. Materials and methods: The authors analyzed the existing classifications of syringomyelia and studied its etiology, pathogenesis, diagnostic approaches and treatment tactics using the method of content analysis, analyticalб comparative and contrastive methods. Clinical case: The described clinical case is a variant of the course of syringomyelia, associated with the spinal cord tumor, namely, in particular, anaplastic ependymoma. For a long time, the process remained undetected, despite the long-term examination and drainage of the syringomyelic cavity. Analyzing this case, it is highly important to pay attention to careful history collection, examination of the patient, analysis of the occurrence of certain disorders in order to conduct the neuroimaging examinations in time. Conclusions: Favorable outcome of the disease is directly related to the diagnosis at early stages, especially in young people, the clinical variant of the process, progression of the course, the degree of involvement of various parts of the nervous system and extraneural formations, the severity of the lesion. The treatment tactics and the ability to restore the functions will depend on all these factors.

Rasmussen Encephalitis: An Update

2020 ◽  
Vol 40 (02) ◽  
pp. 201-210 ◽  
Author(s):  
Karla C. Cay-Martinez ◽  
Richard A. Hickman ◽  
Guy M. McKhann II ◽  
Frank A. Provenzano ◽  
Tristan T. Sands
Keyword(s):  
Cognitive Decline ◽  
Focal Epilepsy ◽  
Epileptic Activity ◽  
Epileptic Encephalopathy ◽  
Pediatric Epilepsy ◽  
Rasmussen Encephalitis ◽  
Immune Attack ◽  
A Cell ◽  
Immunomodulatory Therapies ◽  
The Impact

AbstractRasmussen encephalitis (RE) is a rare, devastating, progressive pediatric epilepsy. First described 60 years ago, RE continues to present challenges in diagnosis and management. RE causes a unilateral focal epilepsy in children that typically becomes medically refractory, results in significant hemiparesis, and causes progressive cognitive decline. The etiology is a cell-mediated immune attack on one cerebral hemisphere, though the inciting antigen remains unknown. While the underlying histopathology is unilateral and RE is described as “unihemispheric,” studies have demonstrated (1) atrophy of the unaffected hemisphere, (2) electroencephalographic abnormalities (slowing and spikes) in the unaffected hemisphere, and (3) cognitive decline referable to the unaffected hemisphere. These secondary contralateral effects likely reflect the impact of uncontrolled epileptic activity (i.e., epileptic encephalopathy). Hemispheric disconnection (HD) renders 70 to 80% of patients seizure free. While it has the potential to limit the influence of seizures and abnormal electrical activity emanating from the pathological hemisphere, HD entails hemiparesis and hemianopia, as well as aphasia for patients with dominant HD. With the recent expansion of available immunomodulatory therapies, there has been interest in identifying an alternative to HD, though evidence for disease modification is limited to date. We review what is known and what remains unknown about RE.

scholarly journals Risk of vaccination in children with epilepsy

2010 ◽  
Vol 63 (9-10) ◽  
pp. 696-700
Author(s):  
Marija Knezevic-Pogancev
Keyword(s):  
Protective Efficacy ◽  
Public Health Intervention ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Childhood Diseases ◽  
Term Outcome ◽  
Long Term Outcome ◽  
The Central Nervous System ◽  
The Brain

Introduction. The central nervous system, previously considered as 'immune privileged', does exhibit features of inflammation in response to injury, infection or disease. We do not know its reactions on immunization. We do not know how common febrile seizures after vaccination are and if there are subgroups of children at higher risk. What is the long term outcome for children who had a febrile seizure after vaccination? Can the vaccine be a direct cause of a condition called an epileptic encephalopathy, where seizures damage the brain with the resulting epilepsy? Discussion and Conclusion. It should not be forgotten that 'benign infective childhood diseases' can, and do, kill, and that vaccines are a public health intervention saving many millions of lives around the world. Parents as well as doctors have fear: whether vaccinations can cause convulsions, epilepsy or encephalopathy. Large studies of this issue have produced conflicting results, although the recent consensus is that the risk of vaccine-induced epilepsy and or encephalopathy, if it exists at all, is extremely low. It is necessary to establish a proposed immunization program for children at neurologically high risk and for children with epilepsy to protect them and the whole population from infectious diseases, children from immunization adverse events, and avoid possibilities of legal trial. It is necessary to know everything about the risks and benefits of immunizations for each child. For each child, the risks of the disease, and its squeal, must be compared with the vaccine's protective efficacy and potential adverse reactions. Vaccination is given preference in nearly all children with epilepsy.

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.

Sign in / Sign up

Export Citation Format

Share Document