scholarly journals The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy

2013 ◽  
Vol 2013 ◽  
pp. 1-6
Author(s):  
Husam R. Kayyali ◽  
Ahmed Abdelmoity ◽  
Saleh Baeesa
Keyword(s):  
Clinical Features ◽  
Developmental Disability ◽  
Epilepsy Surgery ◽  
Surgical Approach ◽  
Brain Function ◽  
Brain Lesion ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Electroencephalogram Eeg

Children with epileptic encephalopathy often have global impairment of brain function and frequent intractable seizures, which contribute further to their developmental disability. Many of these children have identifiable brain lesion on neurological imaging. In such cases, epilepsy surgery may be considered as a treatment option despite the lack of localized epileptic pattern on electroencephalogram (EEG). In this paper, we summarize the clinical features of epileptic encephalopathy syndromes and review the reported literature on the surgical approach to some of these disorders.

Awake Craniotomy for Tumour, Epilepsy, and Functional Neurosurgery

2019 ◽  
pp. 235-244
Author(s):  
Lashmi Venkatraghavan ◽  
Pirjo Manninen
Keyword(s):  
Epilepsy Surgery ◽  
Brain Function ◽  
Anaesthetic Management ◽  
Awake Craniotomy ◽  
Epileptic Focus ◽  
Awake Patient ◽  
Functional Neurosurgery ◽  
Deep Brain Stimulator ◽  
Deep Brain

An awake craniotomy for tumour and epilepsy surgery allows for the mapping of eloquent brain function to minimize its injury and/or for the localization of an epileptic focus. The insertion of deep brain stimulators for the treatment of functional neurosurgical disorders is also frequently performed with an awake patient. The role of the anaesthetist is important in order to have a comfortable and cooperative patient, for the use of appropriate sedation to allow for mapping, and careful vigilance to rapidly diagnose and treat any complication. This chapter discusses the overall rationale for, and the anaesthetic management of, patients undergoing awake craniotomy for tumours, epilepsy surgery, or deep brain stimulator placement.

scholarly journals Reiterating the role of corpus callosum in generalization of interictal and ictal epileptiform discharges: a case report with post-callosotomy intracranial electroencephalography in Lennox–Gastaut syndrome

2021 ◽  
Vol 13 (3) ◽  
pp. 249-253
Author(s):  
S. Gopinath ◽  
A. Pillai ◽  
A. G. Diwan ◽  
J. V. Pattisapu ◽  
K. Radhakrishnan
Keyword(s):  
Corpus Callosum ◽  
Epileptic Encephalopathy ◽  
Drop Attacks ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Eeg Abnormalities ◽  
Before And After ◽  
Intracranial Electroencephalography ◽  
Electroencephalogram Eeg

Lennox–Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by delayed mental development and intractable multiple seizure types, predominantly tonic. Drop attacks are the commonest and the most disabling type of seizures. Resective surgery is often not possible in LGS as the electroencephalogram (EEG) abnormalities are usually multifocal and generalized, and magnetic resonance image is often either normal or multilesional. We report a case of LGS with bilateral parieto-occipital gliosis where EEG before and after callosotomy demonstrated synchronized bilateral interictal epileptiform discharges and ictal discharges becoming desynchronized and running down. This phenomenon emphasizes the role of the corpus callosum in secondary bilateral synchrony.

scholarly journals SCN8A Encephalopathy: Case Report and Literature Review

2021 ◽  
Vol 13 (2) ◽  
pp. 143-150
Author(s):  
Hueng-Chuen Fan ◽  
Hsiu-Fen Lee ◽  
Ching-Shiang Chi
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Missense Mutations ◽  
Resonance Imaging ◽  
Biochemical Tests ◽  
Genetic Sequencing ◽  
Intractable Seizures ◽  
Main Voltage ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy. Herein, we report the case of a 5-month-old girl with SCN8A encephalopathy with a novel missense mutation. Apart from intractable seizures and autistic phenotypes, the results of blood and biochemical tests, electroencephalogram (EEG) results, and brain magnetic resonance imaging (MRI) results were all normal. As the phenotypes caused by these mutations cannot be identified by any clinical, neuroimaging, or electrophysiological features, genetic sequencing should be considered to identify the underlying genetic causes. Although phenytoin is recommended as a last-resort treatment for SCN8A encephalopathy, the administration of the oxcarbazepine, instead of phenytoin, mitigated this patient’s intractable seizures.

scholarly journals GABRB3 mutation as a cause of Ohtahara syndrome: A case report

2021 ◽  
pp. 480-481
Author(s):  
Mohini Bhelo ◽  
Harshita Jagwani ◽  
Swapan Mukherjee ◽  
Hriday De ◽  
Apurbo Ghosh
Keyword(s):  
Case Report ◽  
Neonatal Period ◽  
Male Infant ◽  
Epileptic Encephalopathy ◽  
Heterozygous Mutation ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Burst Pattern ◽  
Electroencephalogram Eeg ◽  
Video Eeg

Ohtahara syndrome (OS) is a rare early infantile epileptic encephalopathy that is characterized by an abnormal electroencephalogram (EEG) and intractable seizures. The patient of this reported case is a 4-month-old male infant delivered by cesarean section with an uneventful antenatal and neonatal period. At 2 months of age, he developed seizures that were refractory to anticonvulsants. Prolonged video EEG showed a characteristic suppression-burst pattern. We report an infant OS associated with heterozygous mutation in the GABRB3 gene.

Microbiota-Immune System Interactions in Human Neurological Disorders

2020 ◽  
Vol 19 (7) ◽  
pp. 509-526
Author(s):  
Qin Huang ◽  
Fang Yu ◽  
Di Liao ◽  
Jian Xia
Keyword(s):  
Immune System ◽  
Gut Microbiota ◽  
Neurological Disorders ◽  
Brain Function ◽  
Neurological Diseases ◽  
Host Immune System ◽  
Gut Dysbiosis ◽  
Characteristic Features ◽  
Novel Therapeutic Strategies

: Recent studies implicate microbiota-brain communication as an essential factor for physiology and pathophysiology in brain function and neurodevelopment. One of the pivotal mechanisms about gut to brain communication is through the regulation and interaction of gut microbiota on the host immune system. In this review, we will discuss the role of microbiota-immune systeminteractions in human neurological disorders. The characteristic features in the development of neurological diseases include gut dysbiosis, the disturbed intestinal/Blood-Brain Barrier (BBB) permeability, the activated inflammatory response, and the changed microbial metabolites. Neurological disorders contribute to gut dysbiosis and some relevant metabolites in a top-down way. In turn, the activated immune system induced by the change of gut microbiota may deteriorate the development of neurological diseases through the disturbed gut/BBB barrier in a down-top way. Understanding the characterization and identification of microbiome-immune- brain signaling pathways will help us to yield novel therapeutic strategies by targeting the gut microbiome in neurological disease.

scholarly journals Native α-Synuclein, 3-Nitrotyrosine Proteins, and Patterns of Nitro-α-Synuclein-Immunoreactive Inclusions in Saliva and Submandibulary Gland in Parkinson’s Disease

Antioxidants ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 715
Author(s):  
Emilio Fernández-Espejo ◽  
Fernando Rodríguez de Fonseca ◽  
Juan Suárez ◽  
Eduardo Tolosa ◽  
Dolores Vilas ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Nervous System ◽  
Clinical Features ◽  
Clinical Feature ◽  
Similar Concentration ◽  
Duct Cells ◽  
Nitrative Stress ◽  
Salivary Concentration

Background. Salivary α-synuclein (aSyn) and its nitrated form, or 3-nitrotyrosine-α-synuclein (3-NT-αSyn), hold promise as biomarkers for idiopathic Parkinson’s disease (IPD). Nitrative stress that is characterized by an excess of 3-nitrotyrosine proteins (3-NT-proteins) has been proposed as a pathogenic mechanism in IPD. The objective is to study the pathological role of native αSyn, 3-NT-αSyn, and 3-NT-proteins in the saliva and submandibulary glands of patients with IPD. Methods. The salivary and serum αSyn and 3-NT-proteins concentration is evaluated with ELISA in patients and controls. Correlations of αSyn and 3-NT-proteins content with clinical features of the disease are examined. Immunohistochemical 3-NT-αSyn expression in submandibulary gland sections is analyzed. Results. (a) Salivary concentration and saliva/serum ratios of native αSyn and 3-NT-proteins are similar in patients and controls; (b) salivary αSyn and 3-NT-proteins do not correlate with any clinical feature; and (c) three patterns of 3-NT-αSyn-positive inclusions are observed on histological sections: rounded “Lewy-type” aggregates of 10–25 µm in diameter, coarse deposits with varied morphology, and spheroid inclusions or bodies of 3–5 µm in diameter. “Lewy-type” and coarse inclusions are observed in the interlobular connective tissue of the gland, and small-sized bodies are located within the cytoplasm of duct cells. “Lewy-type” inclusions are only observed in patients, and the remaining patterns of inclusions are observed in both the patients and controls. Conclusions. The patients’ saliva presents a similar concentration of native αSyn and 3-nitrotyrosine-proteins than that of the controls, and no correlations with clinical features are found. These findings preclude the utility of native αSyn in the saliva as a biomarker, and they indicate the absence of nitrative stress in the saliva and serum of patients. As regards nitrated αSyn, “Lewy-type” inclusions expressing 3-NT-αSyn are observed in the patients, not the controls—a novel finding that suggests that a biopsy of the submandibulary gland, if proven safe, could be a useful technique for diagnosing IPD. Finally, to our knowledge, this is also the first description of 3-NT-αSyn-immunoreactive intracytoplasmic bodies in cells that are located outside the nervous system. These intracytoplasmic bodies are present in duct cells of submandibulary gland sections from all subjects regardless of their pathology, and they can represent an aging or involutional change. Further immunostaining studies with different antibodies and larger samples are needed to validate the data.

scholarly journals Cortical and Striatal Electroencephalograms and Apomorphine Effects in the FUS Mouse Model of Amyotrophic Lateral Sclerosis

2021 ◽  
pp. 1-15
Author(s):  
Vasily Vorobyov ◽  
Alexander Deev ◽  
Frank Sengpiel ◽  
Vladimir Nebogatikov ◽  
Aleksey A. Ustyugov
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Cortical Neurons ◽  
Primary Motor Cortex ◽  
Beta Activity ◽  
Systemic Injection ◽  
Eeg Spectra ◽  
Electroencephalogram Eeg ◽  
Lateral Sclerosis

Background: Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of motor neurons resulting in muscle atrophy. In contrast to the lower motor neurons, the role of upper (cortical) neurons in ALS is yet unclear. Maturation of locomotor networks is supported by dopaminergic (DA) projections from substantia nigra to the spinal cord and striatum. Objective: To examine the contribution of DA mediation in the striatum-cortex networks in ALS progression. Methods: We studied electroencephalogram (EEG) from striatal putamen (Pt) and primary motor cortex (M1) in ΔFUS(1–359)-transgenic (Tg) mice, a model of ALS. EEG from M1 and Pt were recorded in freely moving young (2-month-old) and older (5-month-old) Tg and non-transgenic (nTg) mice. EEG spectra were analyzed for 30 min before and for 60 min after systemic injection of a DA mimetic, apomorphine (APO), and saline. Results: In young Tg versus nTg mice, baseline EEG spectra in M1 were comparable, whereas in Pt, beta activity in Tg mice was enhanced. In older Tg versus nTg mice, beta dominated in EEG from both M1 and Pt, whereas theta and delta 2 activities were reduced. In younger Tg versus nTg mice, APO increased theta and decreased beta 2 predominantly in M1. In older mice, APO effects in these frequency bands were inversed and accompanied by enhanced delta 2 and attenuated alpha in Tg versus nTg mice. Conclusion: We suggest that revealed EEG modifications in ΔFUS(1–359)-transgenic mice are associated with early alterations in the striatum-cortex interrelations and DA transmission followed by adaptive intracerebral transformations.

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

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