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https://www.readbyqxmd.com/read/29677576/early-mortality-in-scn8a-related-epilepsies
#1
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli
SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe intellectual disability. Reports have suggested that SCN8A-related epilepsies have a high mortality with SUDEP as the major underlying cause. SUDEP is a catastrophic event, and the risk of occurrence should be correctly and carefully discussed with patients and families. We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A...
April 13, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29667458/sudden-unexpected-death-in-epilepsy-ongoing-challenges-in-finding-mechanisms-and-prevention
#2
Doungporn Ruthirago, Parunyou Julayanont, Amputch Karukote, Mohamed Shehabeldin, Kenneth Nugent
Patients with epilepsy have a significantly higher risk of death than the general population. Sudden unexpected death in epilepsy (SUDEP) is the leading cause of sudden death among patients with epilepsy. Despite on-going research, there are still deficits in our knowledge about the mechanisms, genetic factors, and prevention of SUDEP. Current evidence suggests that cardiac arrhythmias, respiratory dysfunction, and brainstem arousal system dysfunction are the major mechanisms of SUDEP, and animal models support the role of neurotransmitters, especially serotonin and adenosine, in pathophysiology of SUDEP...
April 18, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29663344/circumstances-of-sudep-a-nationwide-population-based-case-series
#3
Olafur Sveinsson, Tomas Andersson, Sofia Carlsson, Torbjörn Tomson
OBJECTIVE: Given the increasing attention being paid to potential strategies for sudden unexpected death in epilepsy (SUDEP) prevention, we analyzed the circumstances of SUDEP and its incidence in relation to time of year, week, and day. METHODS: Prospective case-series based on persons with an all International Classification of Diseases (ICD-10) code for epilepsy in the Swedish Patient Registry 1998-2005, who were alive on June 30, 2006 (n = 60 952). Linkage to the National Cause-of-Death Registry identified all deaths from July 2006 through December 2011, with epilepsy mentioned on death certificate, together with deaths during 2008 (n = 3166)...
April 17, 2018: Epilepsia
https://www.readbyqxmd.com/read/29620011/ictal-laryngospasm-monitored-by-video-eeg-and-polygraphy-a-potential-sudep-mechanism
#4
Nuria Lacuey, Laura Vilella, Johnson P Hampson, Jayakumar Sahadevan, Samden D Lhatoo
A 56-year-old man with refractory bitemporal epilepsy was monitored in the Epilepsy Monitoring Unit (EMU). In a video-EEG captured seizure, brief oroalimentary automatisms were followed by increased inspiratory effort, accompanied by prominent, visible tracheal movements and audible inspiratory stridor. The patient's oxygen saturation rapidly declined to 62%; persistent severe hypoxemia ended with spontaneous effective respiration commencing at seizure end. Subsequent seizures necessitated intensive care unit admission for respiratory distress, and ventilator support...
April 5, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29619247/cardiac-arrhythmia-and-neuroexcitability-gene-variants-in-resected-brain-tissue-from-patients-with-sudden-unexpected-death-in-epilepsy-sudep
#5
Daniel Friedman, Kasthuri Kannan, Arline Faustin, Seema Shroff, Cheddhi Thomas, Adriana Heguy, Jonathan Serrano, Matija Snuderl, Orrin Devinsky
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality in young adults. The exact mechanisms are unknown but death often follows a generalized tonic-clonic seizure. Proposed mechanisms include seizure-related respiratory, cardiac, autonomic, and arousal dysfunction. Genetic drivers underlying SUDEP risk are largely unknown. To identify potential SUDEP risk genes, we compared whole-exome sequences (WES) derived from formalin-fixed paraffin embedded surgical brain specimens of eight epilepsy patients who died from SUDEP with seven living controls matched for age at surgery, sex, year of surgery and lobe of resection...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29611888/decreasing-the-risk-of-sudep-structured-communication-of-risk-factors-for-premature-mortality-in-people-with-epilepsy
#6
Rohit Shankar, William Henley, Cailin Boland, Richard Laugharne, Brendan N McLean, Craig Newman, Jane Hanna, Samantha Ashby, Matthew C Walker, Josemir W Sander
BACKGROUND: Good practice guidelines highlight the importance of making people with epilepsy aware of the risk of premature mortality in epilepsy particularly due to Sudden Unexpected Death in Epilepsy (SUDEP). The SUDEP and Seizure Safety Checklist ("Checklist") is a structured risk communication tool used in UK clinics. It is not known if sharing structured information on risk factors allows individuals to reduce SUDEP and premature mortality risks. AIM: To ascertain if the introduction of the Checklist in epilepsy clinics lead to individual risk reduction...
April 3, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29608654/the-ventrolateral-medulla-and-medullary-raphe-in-sudden-unexpected-death-in-epilepsy
#7
Smriti Patodia, Alyma Somani, Megan O'Hare, Ranjana Venkateswaran, Joan Liu, Zuzanna Michalak, Matthew Ellis, Ingrid E Scheffer, Beate Diehl, Sanjay M Sisodiya, Maria Thom
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in patients with epilepsy. One hypothesis proposes that sudden death is mediated by post-ictal central respiratory depression, which could relate to underlying pathology in key respiratory nuclei and/or their neuromodulators. Our aim was to investigate neuronal populations in the ventrolateral medulla (which includes the putative human pre-Bötzinger complex) and the medullary raphe. Forty brainstems were studied comprising four groups: 14 SUDEP, six epilepsy controls, seven Dravet syndrome cases and 13 non-epilepsy controls...
March 28, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29596066/sudden-unexpected-death-in-epilepsy-incidence-risk-factors-and-proposed-mechanisms
#8
Steven P Ellis, Charles Ákos Szabó
Epilepsy is a common neurological disorder associated with increased morbidity and mortality, including premature death from different causes. Sudden unexpected death in epilepsy, or SUDEP, is one of the most common causes of death in people with epilepsy and originally brought to light by medical examiners. It accounts for 5% to 30% of all deaths in individuals with epilepsy and up to 50% in individuals with medically refractory epilepsy. It is commonly associated with a history of generalized tonic-clonic seizures and may be mitigated by other electroclinical risk factors, such as postictal electroencephalographic suppression, prone position, altered heart rate variability, conduction abnormalities, gender, or antiepileptic medications, to name a few...
March 28, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29588994/-saved-by-the-bell-near-sudep-during-intracranial-eeg-monitoring
#9
Duaa M Ba-Armah, Elizabeth J Donner, Ayako Ochi, Cristina Go, Bláthnaid McCoy, Carter Snead, James Drake, Kevin C Jones
SUDEP is the sudden unexpected death of a person with epilepsy, when no structural or toxicological cause of death can be found. The majority of witnessed cases are reported to be preceded by a convulsive seizure and postictal hypoventilation. Here, we report an 8-year-old girl with drug-resistant focal seizures secondary to a focal cortical dysplasia type IIb. While undergoing invasive intracranial monitoring with subdural and depth electrodes, she had a clinical apnea event recorded on video, followed by bradycardia, which required resuscitation...
March 2018: Epilepsia open
https://www.readbyqxmd.com/read/29557234/sudden-unexpected-death-in-epilepsy-in-a-14-year-old-girl-case-report-and-literature-review
#10
Xinyue Zhang, Lichao Sun, Li Cui, Weihong Lin
Background Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in people with epilepsy. The pathogenesis of SUDEP is still unclear. The majority of SUDEP cases occur in intractable epilepsy, especially in the aftermath of a generalized tonic-clonic seizure. We report an atypical SUDEP case with infrequent seizures in frontal lobe epilepsy. Case Report A 14-year-old girl presented with a 13-year history of paroxysmal convulsions. She experienced three episodes within 6-10 months after birth...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29542031/an-explanation-for-sudden-death-in-epilepsy-sudep
#11
REVIEW
Mark Stewart
This review traces the examination of autonomic, cardiovascular, and respiratory derangements associated with seizure activity in the clinical and preclinical literature generally, and in the author's animal model specifically, and concludes with the author's views on the potential mechanisms for sudden death in epilepsy (SUDEP). An animal model that employs kainic acid-induced seizures on a background of urethane anesthesia has permitted unprecedented access to the behavior of autonomic, cardiovascular, and respiratory systems during seizure activity...
March 14, 2018: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/29492970/national-association-of-medical-examiners-position-paper-recommendations-for-the-investigation-and-certification-of-deaths-in-people-with-epilepsy
#12
Owen Middleton, Daniel Atherton, Elizabeth Bundock, Elizabeth Donner, Daniel Friedman, Dale Hesdorffer, Heather Jarrell, Aileen McCrillis, Othon J Mena, Mitchel Morey, David Thurman, Niu Tian, Torbjörn Tomson, Zian Tseng, Steven White, Cyndi Wright, Orrin Devinsky
Sudden unexpected death of an individual with epilepsy can pose a challenge to death investigators, as most deaths are unwitnessed, and the individual is commonly found dead in bed. Anatomic findings (eg, tongue/lip bite) are commonly absent and of varying specificity, thereby limiting the evidence to implicate epilepsy as a cause of or contributor to death. Thus it is likely that death certificates significantly underrepresent the true number of deaths in which epilepsy was a factor. To address this, members of the National Association of Medical Examiners, North American SUDEP Registry, Epilepsy Foundation SUDEP Institute, American Epilepsy Society, and the Centers for Disease Control and Prevention constituted an expert panel to generate evidence-based recommendations for the practice of death investigation and autopsy, toxicological analysis, interpretation of autopsy and toxicology findings, and death certification to improve the precision of death certificate data available for public health surveillance of epilepsy-related deaths...
March 1, 2018: Epilepsia
https://www.readbyqxmd.com/read/29473152/white-matter-spongiosis-with-vigabatrin-therapy-for-infantile-spasms
#13
Phillip L Pearl, Annapurna Poduri, Sanjay P Prabhu, Chellamani Harini, Richard Goldstein, Richard M Atkinson, Dawna Armstrong, Hannah Kinney
The histopathology, "white matter spongiosis," defined by electron microscopy (EM) as "intramyelinic edema," has been associated with vigabatrin therapy in various animal models, but its role or significance in clinical studies is unknown. We conducted a neuropathological examination on a 27-month-old boy with bilateral polymicrogyria and epilepsy after sudden unexpected death in epilepsy (SUDEP). The patient was initiated on vigabatrin at 4 months of age, which controlled infantile spasms, and was continued as maintenance therapy...
February 23, 2018: Epilepsia
https://www.readbyqxmd.com/read/29462915/pilocarpine-induced-status-epilepticus-is-associated-with-p-glycoprotein-induction-in-cardiomyocytes-electrocardiographic-changes-and-sudden-death
#14
Jerónimo Auzmendi, Bruno Buchholz, Jimena Salguero, Carlos Cañellas, Jazmín Kelly, Paula Men, Marcela Zubillaga, Alicia Rossi, Amalia Merelli, Ricardo J Gelpi, Alberto J Ramos, Alberto Lazarowski
Sudden unexpected death in epilepsy (SUDEP) is the major cause of death in those patients suffering from refractory epilepsy (RE), with a 24-fold higher risk relative to the normal population. SUDEP risk increases with seizure frequency and/or seizure-duration as in RE and Status Epilepticus (SE). P-glycoprotein (P-gp), the product of the multidrug resistant ABCB1-MDR-1 gene, is a detoxifying pump that extrudes drugs out of the cells and can confer pharmacoresistance to the expressing cells. Neurons and cardiomyocytes normally do not express P-gp, however, it is overexpressed in the brain of patients or in experimental models of RE and SE...
February 16, 2018: Pharmaceuticals
https://www.readbyqxmd.com/read/29454605/knowledge-of-sudden-unexpected-death-in-epilepsy-sudep-among-372-patients-attending-a-german-tertiary-epilepsy-center
#15
Rainer Surges, Randi von Wrede, Thomas Porschen, Christian E Elger
BACKGROUND: There is evidence that the sudden unexpected death in epilepsy (SUDEP) risk can be reduced by good seizure control, nocturnal supervision, and by early cardiopulmonary resuscitation if cardiorespiratory arrest occurs in the aftermaths of generalized tonic-clonic seizures (GTCS). These measures, however, may critically depend on the knowledge of patients and relatives on SUDEP. Here, we assessed the basic knowledge on SUDEP of people with epilepsy at a tertiary epilepsy center in Germany...
March 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29443088/simultaneous-video-eeg-ecg-monitoring-to-identify-neurocardiac-dysfunction-in-mouse-models-of-epilepsy
#16
Vikas Mishra, Nicole M Gautier, Edward Glasscock
In epilepsy, seizures can evoke cardiac rhythm disturbances such as heart rate changes, conduction blocks, asystoles, and arrhythmias, which can potentially increase risk of sudden unexpected death in epilepsy (SUDEP). Electroencephalography (EEG) and electrocardiography (ECG) are widely used clinical diagnostic tools to monitor for abnormal brain and cardiac rhythms in patients. Here, a technique to simultaneously record video, EEG, and ECG in mice to measure behavior, brain, and cardiac activities, respectively, is described...
January 29, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29428900/the-provision-of-care-to-adults-with-an-intellectual-disability-in-the-uk-a-special-report-from-the-intellectual-disability-uk-chapter-ilae
#17
M P Kerr, L V Watkins, H Angus-Leppan, A Corp, M Goodwin, C Hanson, A Roy, R Shankar
PURPOSE: This article reflects the report by the British Branch of the International League Against Epilepsy (ILAE) Working Group on services for adults with epilepsy and intellectual disability (ID). Its terms of reference was to explore the current status of aspects of the care of people with an ID and epilepsy. METHODS: Survey content was developed from key themes identified by consensus of the working group. An electronic survey was distributed via email. The sample population was the membership of the ILAE UK, Royal College of Psychiatrists (RCPsych) Faculty of ID, Epilepsy Nurses Association (ESNA), and the Association of British Neurologists (ABN)...
February 8, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29425076/identifying-and-mitigating-sudden-unexpected-death-in-epilepsy-sudep-risk-factors
#18
Lance Watkins, Rohit Shankar, Josemir W Sander
Sudden Unexpected Death in Epilepsy (SUDEP) is a significant cause of death for people with chronic epilepsy. Good practice guidance in the UK and the USA expect SUDEP to be discussed with the individual. The event rarity, methodological variance and lack of robust research into the pathological mechanisms, associated risk factors, and management strategies have created a challenge on how and what to discuss. There are some significant associations which allows for risk assessment and mitigation. Areas covered: The current understanding of static and modifiable risk factors for SUDEP and how to manage these more effectively are reviewed...
February 9, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29420859/amygdala-stimulation-induced-apnea-is-attention-and-nasal-breathing-dependent
#19
William P Nobis, Stephen Schuele, Jessica W Templer, Guangyu Zhou, Gregory Lane, Joshua M Rosenow, Christina Zelano
OBJECTIVE: Evidence suggests disordered breathing is critically involved in Sudden unexplained death in epilepsy (SUDEP). To that end, evaluating structures that are activated by seizures and can activate brain regions that produce cardiorespiratory changes can further our understanding of the pathophysiology of SUDEP. Prior preclinical studies have shown that electrical stimulation of the human amygdala induces apnea, suggesting a role for the amygdala in controlling respiration. In this study, we aimed to both confirm these findings in a larger group of patients with intractable temporal lobe epilepsy (TLE) and also further explore the anatomical and cognitive properties of this effect...
February 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29420845/conscious-control-of-breathing-a-key-to-sudep-prevention
#20
Tobias Loddenkemper
No abstract text is available yet for this article.
February 8, 2018: Annals of Neurology
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