Journal of epilepsy最新文献

{"title":"Novel TSC1 Gene Mutation in a Familial Case of Tuberous Sclerosis Complex: A Case Report","authors":"Alberto Pinzon-Ardila, Claudia Vallin, K. Abrams, I. Miller","doi":"10.4172/2472-0895.1000102","DOIUrl":"https://doi.org/10.4172/2472-0895.1000102","url":null,"abstract":"Introduction: Tuberous sclerosis complex (TSC) is a genetic disorder that can arise from sporadic or inherited mutations in TSC1 or TSC2 genes. It is characterized by tumors in multiple organs that result in broad clinical manifestations, usually affecting the central nervous system. Diagnosis is based upon clinical criteria that require careful clinical examination along with imaging and the availability of genetic testing to assess gene mutations linked to this disorder. We present a familial case of tuberous sclerosis complex with multiple subtle clinical manifestations and novel TSC1 mutation that were diagnosed in adulthood. This report adds to the growing literature on TSC1 gene by correlating specific nucleotide substitutions with possible secondary clinical manifestations. Case presentation: A 21 year-old Hispanic female presented with history of epilepsy onset in early childhood. Upon clinical examination and imaging testing, she was found to have lesions on her scalp, eyes and brain. Her mother is 51 years old with long-standing history of epilepsy with multiple lesions on skin, eyes, and similar findings in brain imaging to daughter. No additional family history was obtained suggestive of tuberous sclerosis complex. Conclusion: Milder forms of tuberous sclerosis complex can remain undiagnosed until adolescence and adulthood, which may lead to treatment delay and complications due to the lack of regular follow-up care. In this case report, both individuals’ presenting symptom was epilepsy and later other clinical findings were linked to the disorder. Additionally, a novel DNA sequence variant was detected, which expands our knowledge of known TSC1 gene mutations. Although these genetic test results cannot be used alone to make a definite diagnosis, they suggest an association to TSC given the clinical manifestations and family history.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"1 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2015-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What is an Olfactory Hallucination","authors":"R. Henkin","doi":"10.4172/2472-0895.1000E104","DOIUrl":"https://doi.org/10.4172/2472-0895.1000E104","url":null,"abstract":"One type of olfactory hallucination was first reported to occur preceding an epileptic type of seizure and was called an “aura” or “breeze”. This odor usually precedes the seizure by seconds, minutes or even hours but the hallucination usually lasts only seconds to minutes. This type of olfactory hallucination has been reported to smell rancid, fecal, burned, smoky, chemical or exceedingly sweet. This type of olfactory hallucination preceding a seizure is not uncommon but it is less common than a visual or auditory hallucination preceding a seizure. The seizure following the “aura” or hallucination is usually of a typical type with loss of consciousness and bodily shaking. This type of hallucination is usually transient. Following this seizure there is usually a period of recovery called a “postictal state” during which time the patient recovers from the effect of the seizure [1].","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"1 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2015-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Psychosocial Impact of Epilepsy; A Study on Adult People With Epilepsy Attending Clinics In Lusaka","authors":"R. Paul, Sakala Joyce, T. Kusanthan","doi":"10.4172/2472-0895.1000101","DOIUrl":"https://doi.org/10.4172/2472-0895.1000101","url":null,"abstract":"Background: Epilepsy is a chronic disease that affects different aspects of life. Few studies have measured, using validated scales, the psychosocial impact of epilepsy in a general practice setting in Zambia. Aim: To find out the quality of life in PWE attending clinics in Lusaka, and to find out various factors affecting them Method: A survey was undertaken of 50 subjects, with generalized or partial epileptic seizures aged 18 years or more and drawn from epilepsy clinics in Lusaka. The outcome measure was the SF-31(Quality of Life in Epilepsy Inventory-31). Results: 38% of persons with active epilepsy had significantly low QOL due to their condition. Females had lower QOL scores than males. Patients with higher levels of education had higher scores than their counterparts with lesser education. People who had been ill for greater than 5 years had higher scores than those who had been ill for a shorter duration. Those whose caregivers had a high income from salary job had higher scores than those whose caregivers were unemployed. Conclusion: The occurrence of seizures, even at low frequencies, is associated with psychosocial handicap, and this may remain covert in general practice. Increased impairment in QOL was observed in female, less educated patients with recent onset of seizures, and unemployed caregivers. Poor QOL in epilepsy reflects social underachievement and calls for programs to remedy their psychosocial circumstance and improve health service provisions.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"1 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2015-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotransmitters and Epilepsy","authors":"K. Pardo","doi":"10.4172/2472-0895.1000e103","DOIUrl":"https://doi.org/10.4172/2472-0895.1000e103","url":null,"abstract":"I studied my PhD in Biomedical Sciences specialized in Neurosciences in the University of Guadalajara, University Center for Health Sciences, earning Honorable Mention in the exam to obtained the degree. As a result of my Doctoral project I got four articles published in various international journals, one of which I am the first author and I have presented results in three posters at different International Congresses. During that period, my studies focused on determining the contribution of chemical neurotransmission systems on high frequency oscillations associated with epileptogenic processes in the laboratory of Neurophysiology and Neurochemistry in University Center of Biological and Agriculture Sciences in University of Guadalajara, where I worked with Dr. Laura Medina-Ceja who was my mentor. In her laboratory we develops electrophysiology techniques for detection of high frequency oscillations, stereotaxic surgery for implanting electrodes and guide cannula, microdialysis and HPLC techniques, on-line measurements of glutamate by fluorescence, and implementation of different experimental models of epilepsy (acute and chronic). We obtained very interesting results on the modulation of neurotransmitter systems in the high-frequency oscillations (250-500 Hz) involved in hippocampal epileptogenesis, especially in temporal lobe epilepsy. Temporal lobe epilepsy (TLE) is the most common type of partial seizures in adults, affecting at least 20% of all patients with epilepsy [1]. The main features of the TLE may be reproduced in chronic models, such a pilocarpine model. We use the model of pilocarpine because mimics the key features of human TLE [2,3]. In this model have been observed high frequency oscillations, called “fast ripples” of 250 to 500 Hz [4]. These fluctuations play an important role in hippocampal epileptogenesis, acting as generators of pathological synaptic changes in specific brain areas. The pathological interictal activity is considered the cause of seizures and neuronal mechanism responsible of TLE in humans and in experimental models [5]. That is the reason why they are interesting in the study of epilepsy, because they are considered as biomarkers of epilepsy. As part of our results published, we conclude that serotonin has an important role in negative modulation of fast ripples. We found that the concentrations of serotonin in rats with spontaneous seizures were decreased compared to normal rats. The decrease of serotonin in rats with spontaneous seizures is closely related to the emergence seizures. Citalopram administration a selective inhibitor of serotonin re-uptake reduces the occurrence of fast ripples and the amplitude [6]. Also we measurement glutamate concentrations by fluorescence on-line and we could detect glutamate in presence of fast ripples, a fact that was not known, and perform the association of fast ripples and glutamate concentrations. We found that the presence of fast ripples not modified glutamate co","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2015 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2015-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000e103","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autism, Epilepsy and Mitochondrial Disease","authors":"J. Campos","doi":"10.4172/2472-0895.1000E102","DOIUrl":"https://doi.org/10.4172/2472-0895.1000E102","url":null,"abstract":"Autism spectrum disorders (ASD), also called pervasive developmental disorders, neurodevelopmental disorders are including a group of processes that occur as common characteristic impaired social interaction, processes verbal and nonverbal language and existence of repetitive behaviors (stereotypies), with limited activities and interests [1]. Autism frequently has partnered with other processes or symptoms of neurological dysfunction such as epilepsy, motor disorders, hyperactivity, hypotonic, mental retardation, which we think that is a disorder neurobiological heterogeneous etiology [2].","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"1 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2015-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy and the Autisms","authors":"M. Coleman","doi":"10.4172/2472-0895.1000E101","DOIUrl":"https://doi.org/10.4172/2472-0895.1000E101","url":null,"abstract":"Epilepsy and autism have a strong association. The hypothesis of excitatory/inhibitory imbalance first developed in epilepsy is now under serious consideration in autism. Such a hypothesis might help explain why 30% of individuals with one of The Autisms, many of them not yet diagnosed with their underlying disease entity, have a seizure disorder; this is a figure higher than is found even in severely retarded individuals. There are at least 35 diagnosed disease entities with autism/ epilepsy described in the medical literature [1] and now that the cost of genome sequencing has dropped to an affordable range, undoubtedly many more will be identified.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"1 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2015-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical Strategies for Epilepsy in Eloquent Areas","authors":"J. Rolston","doi":"10.4172/2472-0895.1000103","DOIUrl":"https://doi.org/10.4172/2472-0895.1000103","url":null,"abstract":"Patients with medically refractory epilepsy should be evaluated for potentially curative epilepsy surgery when feasible. However, if seizure foci occur in eloquent brain regions—regions where damage causes overt neurological deficits—alternative treatments must be considered. This review will discuss what defines eloquent cortex, and the various treatments of seizure foci in eloquent regions, including resective surgery, multiple subpial transections, electrical brain stimulation of the anterior nucleus of the thalamus, closed-loop responsive neurostimulation, and vagus nerve stimulation.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000103","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identical Twin Discordant for Electrical Status Epilepticus of Sleep (ESES)","authors":"N. J. Sokol, M. Ghoshroy, Chad Meshberger, D. Sokol","doi":"10.4172/2472-0895.1000104","DOIUrl":"https://doi.org/10.4172/2472-0895.1000104","url":null,"abstract":"While some experts use the terms interchangeably, other refer to ESES strictly as the electrographic pattern of frontally dominant spike wave discharges that comprise 85% of nonREM sleep, while CSWSS comprise this EEG pattern, together with the clinical syndrome of regression and epilepsy. The discovery of ESES is considered to be a neurological emergency as permanent intellectual deterioration is associated with the ESES EEG pattern, when refractory. Age of onset has been reported between 3-14 years. The EEG pattern of sleepinduced generalized spike-and wave discharges (1.5-3.5 Hz), occurring continuously or discontinuously, and lasts for months to years. The International League against Epilepsy (ILAE) has determined that ESES is neither a focal nor generalized syndrome [1]. Indeed, this condition has been determined symptomatic, idiopathic (presumed genetic), or cryptogenic (unknown).","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Posttraumatic Epilepsy among Epileptic Children Seen in a Pediatric Neurology Clinic in Enugu, Nigeria-A Descriptive Study","authors":"N. Ojinnaka, M. Akpan, A. Aronu","doi":"10.4172/2472-0895.1000105","DOIUrl":"https://doi.org/10.4172/2472-0895.1000105","url":null,"abstract":"Background: There is a wide variation in epidemiology and clinical profile of children with seizures following a head injury. Head injury can result from a variety of trauma to the head and remains a worldwide public health problem. Purpose: To determine the prevalence and characteristics of posttraumatic epilepsy among epileptic children seen in a pediatric neurology clinic in Enugu, Nigeria. Method: Records of epileptic patients who presented from January 2009 to January 2013 were reviewed. Data of those with history of head injury prior to onset of the seizure were documented. Statistical analysis was done using SPSS. Frequency and contingency table were derived and Chi2 test was used for associations. Result: Out of 1400 patients, who presented to the clinic, six hundred and eighty-two (48.7%) patients had epilepsy and fifty-nine of the epileptics (8.65%) had history of significant head injury before the onset of seizure. The peak incidence was in the preschool age (13-60 months). Falls from heights were the commonest mechanism of head injury. Mild, moderate and severe trauma was documented in 32, 19 and 8 patients respectively. Majority of patients with severe trauma fell from heights. There was however no statistically significant difference between the mechanism of head injury and degree of severity of trauma (p = 0.73). Complex partial seizure was the most common type. Seizure control was documented in 35 patients who were followed up for 18 months or more. Eighteen patients (51.43%) had good control. Conclusion: Head injury is a significant cause of epilepsy in this environment. Home injuries may have farreaching public health concern in our environment.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"43 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70316925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Valproic Acid Induced Isolated Thrombocytopenia after Acute Respiratory Infection","authors":"M. Knežević-Pogančev","doi":"10.4172/2472-0895.1000e106","DOIUrl":"https://doi.org/10.4172/2472-0895.1000e106","url":null,"abstract":"Valproic acid is the most used antiepileptic drug in children. Thrombocytopenia is one of known adverse effects of valproic acid. Acute respiratory infections are the most frequent acute infections in children. We present eleven cases of resistant thrombocytopenia in children on valproic acid therapy within therapeutic levels. Thrombocytopenia (without clinical signs) appeared after a short febrile episodes and signs and symptoms of acute respiratory infection, presenting with only few petehial skin spots. It does not respond to intravenous immunoglobulin’s, nether to corticosteroids. Thrombocytopenia responded dramatically to withdrawing of valproic acid. Complete platelet normalization after valproic acid withdrawal proved known adverse drug reaction between valproic acid and the thrombocytopenia this association.","PeriodicalId":81656,"journal":{"name":"Journal of epilepsy","volume":"2016 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2472-0895.1000e106","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70317386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}