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Epileptic Disorders: International Epilepsy Journal with Videotape

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https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#1
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721936/assessing-quantitative-eeg-spectrograms-to-identify-non-epileptic-events
#2
Ajay Goenka, Alexis Boro, Elissa Yozawitz
To evaluate the sensitivity and specificity of quantitative EEG (QEEG) spectrograms in order to distinguish epileptic from non-epileptic events. Seventeen patients with paroxysmal non-epileptic events, captured during EEG monitoring, were retrospectively assessed using QEEG spectrograms. These patients were compared to a control group of 13 consecutive patients (ages 25-60 years) with epileptic seizures of similar semiology. Assessment of raw EEG was employed as the gold standard against which epileptic and non-epileptic events were validated...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721933/transient-lesions-of-the-splenium-of-the-corpus-callosum-following-rapid-withdrawal-of-levetiracetam
#3
Ryo Sawagashira, Hisashi Narita, Naoki Hashimoto, Tsugiko Kurita, Shin Nakagawa, Takuya Saitoh, Ichiro Kusumi
Transient lesions of the splenium of the corpus callosum are characterized by MRI findings. The lesions are very rare, but significant from a clinical standpoint as differential diagnoses include serious conditions such as encephalitis, meningitis, and neuroleptic malignant syndrome. In addition, it is reported that some are attributed to the withdrawal of antiepileptic drugs. Here, we present a case of transient lesions of the splenium of the corpus callosum following rapid withdrawal of levetiracetam alone...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721930/pharmacoresistant-epileptic-eyelid-twitching-in-a-child-with-a-mutation-in-syngap1
#4
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28652222/hemiconvulsion-hemiplegia-epilepsy-syndrome-in-a-child-with-pre-existing-cerebral-pathology
#5
Athi Ponnusamy, Ahsan Nv Moosa
No abstract text is available yet for this article.
June 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28639552/focal-seizures-with-left-hemibody-piloerection-related-to-left-hemisphere-cavernous-angiomas
#6
Benjamin P Whatley, Cory Jubenville, David B Clarke, Mark R Sadler
No abstract text is available yet for this article.
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28637635/stereotactic-bilateral-transfrontal-minimal-radiofrequency-thermocoagulation-of-the-amygdalohippocampal-complex-for-bilateral-medial-temporal-lobe-epilepsy-a-retrospective-study-of-12-patients
#7
Quanjun Zhao, Tiejun Shi, Shaojie Cui, Zhaohui Wu, Wei Wang, Yunfeng Jia, Zengmin Tian, Fuli Wang, Feng Yin, Hulin Zhao, Xia Xiao, Haiying Wang, Changlan Cai, Huimin Luo
Some patients with temporal lobe epilepsy have bilateral discharges and a few have bilateral medial temporal sclerosis. Stereotactic bilateral radiofrequency thermocoagulation (RFTC) of the amygdalohippocampal complex can terminate seizures or reduce seizure severity in patients with bilateral medial temporal lobe epilepsy (BMTLE). To explore the safety and efficacy of bilateral transfrontal minimal RFTC of the amygdalohippocampal complex for the treatment of BMTLE. A total of 12 BMTLE patients were treated with bilateral transfrontal minimal RFTC of the amygdalohippocampal complex under limited coagulations...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28625944/intractable-ictal-vomiting-a-new-form-of-reflex-epilepsy
#8
Sachin Sureshbabu, Dinesh Nayak, Vikash Aggarwal, Sudhir Peter, Laxmi Khanna, Gaurav Mittal
In this description of the clinical course of a young female with persistent and protracted vomiting along with occasional loss of consciousness and subtle motor manifestations, the differential diagnosis is debated. The epileptic origin of her symptoms was substantiated by the presence of interictal epileptiform discharges and dramatic response to valproate monotherapy. Possible lobar localizations are discussed with the support of existing literature on this rare ictal manifestation [Published with video sequence on www...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28625947/intracranial-investigation-of-a-patient-with-nodular-heterotopia-and-hippocampal-sclerosis-dealing-with-a-dual-pathology
#9
Lady Diana Ladino, Chelsea Dash, Adam Wu, Jose Francisco Tellez-Zenteno
The pre-operative assessment and surgical management of patients with dual pathology is challenging. We describe a patient with drug-resistant focal epilepsy with hippocampal sclerosis and extensive periventricular nodular heterotopia in the same hemisphere. The semiology, scalp EEG, and imaging were divergent, but the presence of focal interictal and ictal epileptic discharges of the putative ictal onset zone resulted in successful localization of the epileptogenic zone. A less aggressive resection was performed based on intracranial EEG recording...
June 12, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28597842/adjunctive-lacosamide-for-focal-epilepsy-an-open-label-trial-evaluating-the-impact-of-flexible-titration-and-dosing-on-safety-and-seizure-outcomes
#10
Michel Baulac, Safia Coulbaut, Pamela Doty, Cindy McShea, Marc De Backer, Fabrice Bartolomei, Mihaela Vlaicu
To evaluate the safety and effectiveness of lacosamide in a real-life setting with the use of a flexible dose titration schedule and individualised maintenance doses up to the maximum approved dose of 400 mg/day. Adults with a diagnosis of focal seizures, with or without secondary generalization, were enrolled in this open-label Phase IV trial (NCT01235403). Lacosamide was initiated at 100 mg/day (50 mg bid) and uptitrated over a 12-week period to 200, 300 or 400 mg/day, based on safety and seizure control...
June 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28587997/long-term-follow-up-of-two-siblings-with-adult-onset-neuronal-ceroid-lipofuscinosis-kufs-type-a
#11
Çiğdem Özkara, Ayşegül Gündüz, Tülin Coşkun, Bengi Gül Alpaslan, Burcu Zeydan, Şakir Delil, Mikko Muona, Anna-Elina Lehesjoki, Meral E Kızıltan
Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. We retrospectively analysed medical records and electrophysiological data in order to delineate evolution of clinical and electrophysiological findings. Electrophysiological studies included routine EEG and video-EEG, as well as polymyographic analysis of myoclonus and brainstem reflex studies...
June 6, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28573975/benign-infantile-seizures-followed-by-autistic-regression-in-a-boy-with-16p11-2-deletion
#12
Roberta Milone, Angelo Valetto, Veronica Bertini, Federico Sicca
Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11...
June 2, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28540848/myoclonic-jerks-are-commonly-associated-with-absence-seizures-in-early-onset-absence-epilepsy
#13
Hala Nasser, Elisa Lopez-Hernandez, Adina Ilea, Neli Le Morvan, Vanina Bellavoine, Catherine Delanoë, Stéphane Auvin
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included...
May 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#14
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28652224/focal-epilepsy-with-paroxysmal-pain-due-to-somatic-injury
#15
Tao Yu, Chang Liu, Guojun Zhang, Liang Qiao, Duanyu Ni, Yuping Wang, Yongjie Li
We present two cases with paroxysmal pain that developed after a somatic injury to the trunk. The main characteristic of the episodes was paroxysmal severe pain, mainly located in the original region of somatic injury, with ipsilateral tonic or dystonic behaviour. The clinical characteristics supported a diagnosis of focal epilepsy. Both scalp EEG and MEG findings suggested epileptic activities on the contralateral central cortex. The focal seizures had a good response to antiepileptic drugs. It is hypothesized that peripheral somatic injuries can modify cortical excitability and lead to plastic changes in the sensory/motor cortex, ultimately resulting in focal seizures...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28652223/ilae-survey-of-neuropsychology-practice-in-pediatric-epilepsy-surgery-evaluation
#16
Madison M Berl, Mary Lou Smith, Christine Bulteau
To determine the extent to which specific neuropsychological measures are in common use around the world for the assessment of children who are candidates for epilepsy surgery. As part of the work of the International League Against Epilepsy Pediatric Surgical Task Force, a survey was developed and distributed online. The survey consisted of questions related to demographics, training experience, general practice, and specific measures used and at what frequency. Seventy-eight clinicians with an average of 13...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#17
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28637636/epilepsy-after-cerebral-infection-review-of-the-literature-and-the-potential-for-surgery
#18
Georgia Ramantani, Hans Holthausen
The risk of unprovoked seizures in population-based cohorts of cerebral infection survivors is 7-8% in developed countries, rising to considerably higher rates in resource-poor countries. The main risk factors for epilepsy after cerebral infection, besides acute seizures, are infection-associated brain lesions and status epilepticus during the acute phase. Despite the high prevalence of pharmacoresistant epilepsies after cerebral infections, especially in patients with MRI-identifiable lesions, only a small minority undergoes epilepsy surgery...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28625946/educational-needs-of-epileptologists-regarding-psychiatric-comorbidities-of-the-epilepsies-a-descriptive-quantitative-survey
#19
Marco Mula, Esper Cavalheiro, Alla Guekht, Andres M Kanner, Hyang Woon Lee, Çiğdem Özkara, Alfredo Thomson, Sarah J Wilson
Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy. The Task Force designed a quantitative questionnaire to survey the self-perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28593865/the-semiology-of-benign-focal-epilepsy-with-affective-symptoms
#20
Fábio A Nascimento, Márcio A Sotero de Menezes, Cristiane A Simão, Bruno T Takeshita, Samanta F Blattes da Rocha, Pedro A Kowacs
Benign focal epilepsy with affective symptoms (BFEAS) is a rare childhood epilepsy syndrome essentially characterized by "epileptic attacks with affective symptoms of a terrifying type". Since the original description, approximately 50 cases have been reported. To our knowledge, however, none of the studies included video-EEG data. Herein, we detail the electroclinical features of a neurodevelopmentally normal 9-year-old boy with epilepsy since the age of 2 years. His seizure semiology essentially consisted of nocturnal focal seizures featuring abrupt fear and autonomic phenomena (such as excessive sweating, repeated swallowing, and coughing), associated with impaired consciousness...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
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