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Epileptic Disorders: International Epilepsy Journal with Videotape

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https://read.qxmd.com/read/30767900/functional-brain-connectivity-in-electrical-status-epilepticus-in-sleep
#1
Steven H Mott, Richard P Morse, Scott A Burroughs, Ashura W Buckley, Cristan A Farmer, Audrey E Thurm, Susan E Swedo, Amara L Krag, Gregory L Holmes
Electrical status epilepticus in sleep (ESES) is an age-related, self-limited epileptic encephalopathy. The syndrome is characterized by cognitive and behavioral abnormalities and a specific EEG pattern of continuous spikes and waves during slow-wave sleep. While spikes and sharp waves are known to result in transient cognitive impairment during learning and memory tasks performed during the waking state, the effect of epileptiform discharges during sleep on cognition and behavior is unclear. There is increasing evidence that abnormalities of coherence, a measure of the consistency of the phase difference between two EEG signals when compared over time, is an important feature of brain oscillations and plays a role in cognition and behavior...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767899/depdc5-mutation-and-familial-focal-epilepsy-with-variable-foci-genotype-and-phenotype-of-a-family
#2
Marina Aberastury, Romina Fernández, Marta Córdoba, Betiana Comas, Martín Peralta, Guillermo Agosta, Marcelo Kauffman, Walter Silva
Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767898/rasmussen-syndrome-absence-seizures-may-be-induced-by-oxcarbazepine
#3
Roberto H Caraballo, Pedro Cachia, Gabriela Reyes Valenzuela, Agustin Calvo
A female patient with electroclinical and neuroradiological features compatible with Rasmussen syndrome developed a particular clinical and EEG pattern. As the seizures were refractory to valproate at 750 mg/kg/day, oxcarbazepine (OXC) at 30 mg/kg/day was added. Seizures became more frequent and on neurological examination, no hemiparesis was detected. The interictal EEG showed focal spikes and diffuse paroxysms in the right fronto-temporal regions. Brain MRI revealed right hemiatrophy, mainly at the Sylvian fissure...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767897/eeg-of-asymptomatic-first-degree-relatives-of-patients-with-juvenile-myoclonic-childhood-absence-and-rolandic-epilepsy-a-systematic-review-and-meta-analysis
#4
Mariam Tashkandi, Duaa Baarma, Andrea C Tricco, Cyrus Boelman, Reem Alkhater, Berge A Minassian
Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3-Hz spike waves and >3-Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes, yet involved genes for the vast majority of patients remain unknown. It has long been proposed that while each disease is genetically complex, its specific EEG trait may represent a genetically simpler endophenotype. This meta-analysis of the literature focuses on the frequency of EEG traits in clinically unaffected first-degree relatives towards determining inheritance patterns of the EEG endophenotypes...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767896/focal-visual-status-epilepticus
#5
Caspar Stephani, Walter Paulus, Niels K Focke
Epileptic visual auras are elementary to complex and sometimes occur as colourful visual phenomena located close to or within the central part of the contralateral hemi-field. They typically last from seconds to a few minutes, which discriminates them from the usually longer-lasting visual auras (5-30 minutes) of patients suffering from migraine. We present an adult patient with occipital lobe epilepsy whose visual aura under epilepsy monitoring lasted for more than 30 minutes with almost no propagation, demonstrating a rare, but remarkable, sustained local epileptic network activity associated with resection of an occipital arterio-venous malformation...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767895/berardinelli-seip-syndrome-and-progressive-myoclonus-epilepsy
#6
Domenico Serino, Chiara Davico, Nicola Specchio, Carlo Efisio Marras, Franco Fioretto
Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30767894/a-rasmussen-encephalitis-autoimmune-encephalitis-and-mitochondrial-disease-mimicker-expanding-the-dnm1l-associated-intractable-epilepsy-and-encephalopathy-phenotype
#7
Danielle A Nolan, Baibing Chen, Anne Marie Michon, Emily Salatka, Daniel Arndt
Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. However, only a few cases have been reported in the literature and there is still a limited amount of information about the symptomatology and pathophysiology associated with pathogenic variants of DNM1L. We report a 10-year-old girl with a one-year history of mild learning disorder and absence seizures who presented with new-onset focal status epilepticus which progressed to severe encephalopathy and asymmetric hemispheric cerebral atrophy...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530444/hemiconvulsion-hemiplegia-epilepsy-in-a-girl-with-cobalamin-c-deficiency
#8
Kenneth A Myers, Roy Wr Dudley, Myriam Srour
Hemiconvulsion-Hemiplegia-Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop a chronic epilepsy with recurrent focal seizures which are often refractory to treatment. This uncommon paediatric epilepsy syndrome is poorly understood, with only a very small minority of cases associated with an underlying genetic or metabolic abnormality. We present a four-year-old girl with genetic cobalamin C deficiency who had a dramatic presentation with Hemiconvulsion-Hemiplegia-Epilepsy...
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530441/kcnq2-mutation-in-an-infant-with-encephalopathy-of-infancy-with-migrating-focal-seizures
#9
Alexander Freibauer, Kevin Jones
A male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work-up was unremarkable. He continued to have seizures refractory to a variety of antiepileptic medications. A phenobarbital coma was trialled, leading to cessation of clinical seizures but continuation of electrographic status epilepticus. On EEG, ictal discharges originated from both the right and left hemispheres, migrating to the opposite hemisphere, consistent with encephalopathy of infancy with migrating focal seizures...
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530428/improved-decision-making-and-psychophysiological-responses-in-mesial-temporal-lobe-epilepsy-after-anterior-temporal-lobectomy
#10
Serra Sandor, Şakir Delil, Selin Yağcı, Bektaş Korkmaz, S Naz Yeni
The somatic marker hypothesis is an influential model of human decision-making postulating that somatic feedback to the brain enhances decision-making in ambiguous circumstances, i.e. when the probabilities of various outcomes are unknown. The somatic feedback can be measured as autonomic responses, which are regulated by the amygdala. The failure to evoke this somatic feedback, which occurs in patients with amygdala lesions, impairs decision-making. The purpose of this study was to investigate the decision-making behaviour of mesial temporal lobe epilepsy patients with pre- and post-epilepsy surgery to ascertain whether the decision-making abilities of groups can be explained by means of the generation of somatic feedback responses...
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530419/cortical-surface-intracranial-electrodes-identify-clinically-relevant-seizures-missed-on-scalp-eeg-after-traumatic-intracranial-hemorrhage
#11
Chris R Marcellino, Samuel Lapalme-Remis, Alejandro A Rabinstein, Jamie J Van Gompel, Gregory A Worrell, Eric T Payne, Sara Hocker
Seizures and other electrophysiological disturbances are an under-recognized cause of coma, focal deficits, and prolonged encephalopathy following subdural hematoma evacuation. In these patients, it is possible that seizures remain unrecognized on scalp EEG. It has been shown that a high burden of seizures and other electrophysiological disturbances exist following surgical evacuation and underlie the encephalopathy commonly seen in this patient population, predisposing them to medical complications and confounding estimates of prognosis...
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530410/list-of-reviewers-for-manuscripts-published-in-2018
#12
(no author information available yet)
No abstract text is available yet for this article.
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530409/juvenile-absence-epilepsy-relapsing-as-recurrent-absence-status-mimicking-transient-global-amnesia-in-an-elderly-patient
#13
Lorenzo Muccioli, Laura Licchetta, Carlotta Stipa, Paolo Tinuper, Francesca Bisulli
We describe a 68-year-old woman who had typical absence seizures since 14 years of age. The absences were refractory to treatment and persisted into adulthood, with no seizure-free periods until seizure control at 59 years of age. After six years of being seizure-free, she presented with an episode characterized by mental confusion, abnormal behaviour, and amnesia, lasting for several hours. An EEG performed the day after, when the patient had already recovered, was unremarkable. The episode was interpreted as transient global amnesia...
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530406/neurosyphilis-a-masked-evildoer
#14
Adam Włodarczyk, Joanna Szarmach, Mariusz S Wiglusz
No abstract text is available yet for this article.
December 10, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30563804/under-reporting-of-nocturnal-seizures-using-video-based-home-monitoring-a-case-study-on-the-evaluation-of-the-effect-of-vagal-nerve-stimulation
#15
Stefano Peciola, Sari-Leena Himanen, Andrew Knight, Maxine Dibué-Adjei, Sirpa Rainesalo, Jukka Peltola
A challenge in treating epilepsy is the accurate documentation of seizure frequency, which is needed in order to assess the benefits of ongoing treatment. We present a 17-year-old girl who underwent video-based monitoring in order to establish an accurate seizure count before and after the implantation of a vagus nerve stimulator to treat refractory epilepsy. The results show a reduction in disabling seizure types after vagus nerve stimulator implantation and highlight the inconsistencies between the reported and actual seizure count in this patient...
December 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530446/the-electroclinical-features-of-idiopathic-generalized-epilepsy-patients-presenting-with-fixation-off-sensitivity
#16
Xiaoli Wang, Ying Zhang, Wenjuan Zhang, Chenxi Shen, Lang Jin, Beibei Chen, Zhao Jiang, James X Tao, Yonghong Liu
To determine the electroclinical features of fixation-off sensitivity (FOS) in patients with idiopathic generalized epilepsy (IGE). We searched the EEG database using the terms "fixation-off sensitivity" and "idiopathic generalized epilepsy" over a four-year period from March 2014 to April 2018 in the Xijing Hospital, Xi'an, China. FOS was evaluated according to the technique proposed by Panayiotopoulos. Photic stimulation procedure and neuropsychological testing were performed during video-EEG monitoring...
December 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530445/de-novo-absence-status-epilepticus-in-three-paediatric-patients-a-new-idiopathic-epilepsy-syndrome
#17
Roberto H Caraballo, Santiago Chacón, Lorena Fasulo, Claudio Bedoya
Absence status epilepticus (ASE) is a prolonged generalized absence seizure that usually lasts for hours and can even last for days. The main symptom is the altered content of consciousness while the patient may be alert and partly responsive. We describe the electroclinical features, treatment, and evolution of three paediatric patients with de novo ASE with an excellent response to valproic acid (VPA). Three paediatric patients presented with non-convulsive status epilepticus and an acute confusional state with impaired consciousness and EEG abnormalities compatible with typical ASE, associated with generalized spike-and-wave paroxysms at 2...
December 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530443/aicardi-s-diseases-of-the-nervous-system-in-childhood-4-th-edition
#18
Ishaq Abu-Arafeh
No abstract text is available yet for this article.
December 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530440/a-new-home-for-the-genetic-literacy-series
#19
Nigel Ck Tan, Samuel F Berkovic, Daniel H Lowenstein
No abstract text is available yet for this article.
December 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30530430/intractable-apnoeic-seizures-in-a-child-with-a-deletion-typically-associated-with-williams-syndrome
#20
Saber Jan, Ayako Ochi, Kota Kagawa, Peter Gill, Astrid Guttmann, Hiroshi Otsubo, Jeff Kobayashi
Williams-Beuren syndrome is rarely associated with epilepsy. One previously reported case showed an association with apnoeic seizures while a few other cases showed an association with infantile epileptic spasms and generalized and focal seizures. We report the case of a 13-month-old boy with a deletion typically associated with Williams-Beuren syndrome, who presented with isolated apnoeic seizures which were refractory to multiple antiepileptic drugs but partially responsive to the ketogenic diet. The diagnosis was challenging due to a complex cardiac history, gastroesophageal reflux, and normal interictal EEG findings...
December 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
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