The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies

Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of these epileptic syndromes are now better defined. The various encephalopathies that are reviewed in this article include the following: early infantile epileptic encephalopathy or Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome, severe myoclonic epilepsy in infancy (Dravet syndrome), Landau-Kleffner syndrome, Lennox-Gastaut syndrome, and epileptic encephalopathy with continuous spike-and-wave during sleep.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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Publication date: May 2020Source: Epilepsy &Behavior, Volume 106Author(s): Elena Zambrelli, Katherine Turner, Aglaia Vignoli, Francesca La Briola, Silvia Dionisio, Sara Malanchini, Federica Galli, Maria Paola Canevini
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Discussion Memory is an important part of what distinguishes higher order species from others. Memory also is part of one’s self-identity. Difficulties in short-term memory can make common, everyday tasks difficult for the person experiencing the problem particularly if it recently occurred and the person’s long-term memory is intact. Difficulties with long-term memory can also have problems when language, events or even one’s own identity are affected. For some people the memory loss is temporary but for others, memory impairments are permanent and must be accepted and accommodated as part of the overall...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
In conclusion, microelectrode implantation surgeries modified some physiological and pathological behaviours; therefore, it is important to consider this fact when it is working with animal models. PMID: 32211080 [PubMed - in process]
Source: Behavioural Neurology - Category: Neurology Authors: Tags: Behav Neurol Source Type: research
Publication date: May 2020Source: Epilepsy &Behavior, Volume 106Author(s): Wen He, Hongsheng Liu, Zhenqing Liu, Qianqian Wu
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
The long-hyped redefinition of healthcare through wearable tech has been … well, long hyped. Early projects, such as Apple HealthKit and Fitbit, were undoubtably important in redefining ‘the possible’ but they haven’t yet achieved transformative application.  Much has been written on why the philosophy that has driven the astonishing success of consumer technology doesn ’t translate to healthcare and when we look at the state of innovation in 2020, many of these structural issues remain.   As Emily Cerciello, Associate Director, Digital Health and Engagement at the Crohn's...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
CONCLUSION: These results indicated that children with BECTS with ESES showed brain activity altered in the CEN and the SN. The difference of impairment in the SN and CEN may lead to improve the understanding of the underlying neuropathophysiology, and to assess the activity of patients with BECTS with ESES, which is crucial for measuring disease activity, improving patient care, and assessing the effect of antiepilepsy therapy. PMID: 32220803 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
We report that both ripples and fast ripples exhibit a preferred phase angle of coupling with the trough-peak (or On-Off) state transition of the sleep slow wave in the hippocampal seizure onset zone (SOZ). Ripples on slow waves in the hippocampal SOZ also had a lower power, greater spectral frequency, and shorter duration than those in the non-SOZ. Slow waves in the mesial temporal lobe modulated the baseline firing rate of excitatory neurons, but did not significantly influence the increased firing rate associated with ripples. In summary, pathological ripples and fast ripples occur preferentially during the On-Off state...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Abstract INTRODUCTION: Sleepiness is among the most common complaints of people with epilepsy, but objective documentation is lacking. We systematically investigated subjective and objective sleepiness in an observational cross-sectional cohort of adults with epilepsy (AWE). METHODS: This is a prospective study of AWE consecutively recruited without foreknowledge of sleep/wake complaints. Polysomnography (PSG) with 18-channel electroencephalography (EEG) followed by multiple sleep latency testing (MSLT) was performed. Patients completed the Epworth Sleepiness Scale (ESS), a single-item question assessing exce...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
This report describes the successful anesthetic management of a 28-year-old woman with a VNS device who underwent dental treatment under general anesthesia. She was morbidly obese and had undergone placement of a VNS device secondary to drug-resistant epilepsy 2 years prior but continued to experience daily epileptic seizures. Because of concerns about the risk of perioperative epileptic seizures and apneic events, use of the dedicated VNS device magnet was planned if such complications occurred. Total intravenous anesthesia was induced with propofol and remifentanil and a bispectral index sensor was used to help monitor b...
Source: Anesthesia Progress - Category: Anesthesiology Tags: Anesth Prog Source Type: research
Seizure detection devices could be invaluable tools for both people with epilepsy, their caregivers, and clinicians. For patients, having a device that could accurately detect seizures and alert caretakers would help relieve the anxiety from the helplessness that seizures can cause. It could also potentially reduce the risk of sudden unexpected death in epilepsy, particularly for those patients with nocturnal seizures who sleep without a bed partner [1]. For clinicians, seizure detection devices can be an important tool because self-reporting of seizures is unreliable [2].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
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