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febrile infection-related epilepsy syndrome

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https://www.readbyqxmd.com/read/28898171/febrile-infection-related-epilepsy-syndrome-fires-a-literature-review-and-case-study
#1
Kristy Fox, Mary Ellen Wells, Michael Tennison, Bradley Vaughn
Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic syndrome that strikes previously healthy children aged 3-15 years and has an unknown pathogenesis and few treatments. These children experience a nonspecific febrile illness that is followed by prolonged refractory status epilepticus. Although the etiology is unknown, FIRES has a biphasic presentation, with the acute phase beginning as seizure activity lasting 1-12 weeks, then followed by the chronic phase, which is characterized by refractory seizures that cluster every 2-4 weeks, and may continue to be multifocal and independent...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28799513/ketogenic-diets-in-the-treatment-of-epilepsy
#2
Maurizio Elia, Joerg Klepper, Baerbel Leiendecker, Hans Hartmann
BACKGROUND: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). They offer an effective alternative for children and adults with drug-resistant epilepsies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28667181/dnm1-encephalopathy-a-new-disease-of-vesicle-fission
#3
Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S Møller, Elizabeth Palmer, John A Lawson, Colleen A Campbell, Charuta N Joshi, Diana L Kolbe, Georgie Hollingsworth, Bernd A Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E Scheffer, Sérgio D J Pena, Sanjay M Sisodiya, Ingo Helbig
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function...
July 25, 2017: Neurology
https://www.readbyqxmd.com/read/28555777/early-ictal-and-interictal-patterns-in-fires-the-sparks-before-the-blaze
#4
Raquel Farias-Moeller, Luca Bartolini, Katelyn Staso, John M Schreiber, Jessica L Carpenter
OBJECTIVE: Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy described as explosive onset of super refractory status epilepticus (SRSE) in previously healthy children. We describe electroencephalography (EEG) abnormalities in the hyperacute phase of FIRES, with the aim of contributing to the diagnostic characterization of a syndrome otherwise lacking specific biomarkers. METHODS: This is a retrospective single-center, case series of seven children with FIRES...
August 2017: Epilepsia
https://www.readbyqxmd.com/read/28436815/moyamoya-in-a-patient-with-fires-a-first-case-report
#5
Taylor Kaufman, Andrew White
Febrile infection-related epilepsy syndrome (FIRES) is a form of epileptic encephalopathy with severe refractory epilepsy that presents in previously healthy, school-aged children after significant febrile illness with concomitant rise in body temperature. Suspected causes include genetic or acquired channelopathies, as well as mitochondrial disturbances. In FIRES, the EEG shows diffuse slowing, generalized, and/or multifocal discharges. Seizures are present and resistant to treatment. Moyamoya angiopathy (MMA) is characterized by progressive stenosis of cerebral arteries and subsequent development of a network of collateral circulation that is prone to rupture...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#6
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#7
REVIEW
Andreas van Baalen, Annamaria Vezzani, Martin Häusler, Gerhard Kluger
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory status epilepticus or a cluster of seizures start a few days after the onset of an acute febrile illness; however, encephalitis cannot be proved. Sequelae of FIRES are drug-resistant epilepsy and neuropsychological impairments occurring without latency. Clinical knowledge is limited because FIRES is sporadic and extremely rare...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27780632/-symptomatic-infection-associated-acute-encephalopathy-in-children-with-underlying-neurological-disorders
#8
Yoshimichi Hirayama, Yoshiaki Saito, Yoshihiro Maegaki
BACKGROUND: Development of infection-associated acute encephalopathy (AE) is precipitated by several factors, including viral agents, age, and genetic polymorphisms. In addition, children with prior underlying neurological disorders can also present with AE. METHOD: We reviewed 55 children with AE who were referred to hospitals participating in the Status Epilepticus Study Group from 1988 to 2013. AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and encephalopathy syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified...
March 2017: Brain & Development
https://www.readbyqxmd.com/read/27770579/febrile-infection-related-epilepsy-syndrome-treated-with-anakinra
#9
Daniel L Kenney-Jung, Annamaria Vezzani, Robert J Kahoud, Reghann G LaFrance-Corey, Mai-Lan Ho, Theresa Wampler Muskardin, Elaine C Wirrell, Charles L Howe, Eric T Payne
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra is a recombinant version of the human interleukin-1 receptor antagonist used to treat autoinflammatory disorders. This is the first report of anakinra for treatment of a child with super-refractory status epilepticus secondary to FIRES. Anakinra was well tolerated and effective. Cerebral spinal fluid analysis revealed elevated levels of proinflammatory cytokines before treatment that normalized on anakinra, suggesting a potential pathogenic role for neuroinflammation in FIRES...
December 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27538648/cytokine-related-and-sodium-channel-polymorphism-as-candidate-predisposing-factors-for-childhood-encephalopathy-fires-aerrps
#10
M Saitoh, K Kobayashi, I Ohmori, Y Tanaka, K Tanaka, T Inoue, A Horino, K Ohmura, A Kumakura, Y Takei, S Hirabayashi, M Kajimoto, T Uchida, S Yamazaki, T Shiihara, T Kumagai, M Kasai, H Terashima, M Kubota, M Mizuguchi
Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B, IL6, IL10, TNFA, IL1RN, SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN, the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls (p=0...
September 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27475280/ketogenic-diet-treatment-for-pediatric-super-refractory-status-epilepticus
#11
Brian Appavu, Lisa Vanatta, John Condie, John F Kerrigan, Randa Jarrar
PURPOSE: We aimed to study whether ketogenic diet (KD) therapy leads to resolution of super-refractory status epilepticus in pediatric patients without significant harm. METHOD: A retrospective review was performed at Phoenix Children's Hospital on patients with super-refractory status epilepticus undergoing ketogenic diet therapy from 2011 to 2015. RESULTS: Ten children with super-refractory status epilepticus, ages 2-16 years, were identified...
October 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27434885/effectiveness-of-electroconvulsive-therapy-for-refractory-status-epilepticus-in-febrile-infection-related-epilepsy-syndrome
#12
Alicia Mirás Veiga, David Conejo Moreno, Ana Isabel Gómez Menéndez, Ignacio Muñoz Siscart, Marta Del Olmo Fernández, Esteban Gómez Sánchez, María García González, Fernando Gómez Sáez
Febrile infection-related epilepsy syndrome (FIRES) is a rare condition which evolves into refractory status epilepticus (SE), with poor outcome in most cases. Conventional antiepileptic drugs fail to control SE in FIRES patients. We report the case of a previously healthy 4-year-old boy who was diagnosed with FIRES. One week after pharyngitis and high fever he started seizures, followed by refractory SE. Benzodiazepines, phenytoin, high-dose barbiturates that induce burst suppression, high doses of corticosteroids, plasmapheresis, immunoglobulins, propofol, lidocaine, ketamine, inhaled desflurane, ketogenic diet, lacosamide, and therapeutic hypothermia were tried at different times in a period of 8 weeks, but all of them were ineffective...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27358770/marked-improvement-in-febrile-infection-related-epilepsy-syndrome-after-lidocaine-plus-mgso4-treatment-in-a-12-year-old-girl
#13
I-Ching Chou, Huan-Cheng Lai, Fuu-Jen Tsai, Yu-Tzu Chang, Sheng-Shing Lin, Syuan-Yu Hong, Inn-Chi Lee
PURPOSE: This report sheds light on a successful treatment in febrile infection-related epilepsy syndrome (FIRES) with the combined use of lidocaine and MgSO4. METHODS: We report a 12-year-old previously healthy girl who experienced an upper respiratory infection with fever and headache for 2 days, then suddenly went into a coma followed by repetitive status epilepticus. All tests for CNS infection, metabolic and toxic diseases, and autoimmune encephalitis were negative...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27293328/clinical-profile-and-treatment-outcome-of-febrile-infection-related-epilepsy-syndrome-in-south-indian-children
#14
Sandeep B Patil, Arun Grace Roy, Kollencheri Puthenveettil Vinayan
PURPOSE: To describe the clinical features and outcome of febrile infection-related epilepsy syndrome (FIRES), a catastrophic epileptic encephalopathy, in a cohort of South Indian children. MATERIALS AND METHODS: We performed a retrospective chart review of a cohort of children with previously normal development who presented with status epilepticus or encephalopathy with recurrent seizures following a nonspecific febrile illness during the period between January 2007 and January 2012...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27000515/a-systematic-review-of-the-risks-factors-associated-with-the-onset-and-natural-progression-of-epilepsy
#15
Stephanie Walsh, Jennifer Donnan, Yannick Fortin, Lindsey Sikora, Andrea Morrissey, Kayla Collins, Don MacDonald
Epilepsy is a neurological condition that affects more than 50 million individuals worldwide. It presents as unpredictable, temporary and recurrent seizures often having negative physical, psychological and social consequences. To inform disease prevention and management strategies, a comprehensive systematic review of the literature on risk factors for the onset and natural progression of epilepsy was conducted. Computerized bibliographic databases for systematic reviews, meta-analyses, observational studies and genetic association studies published between 1990 and 2013 describing etiological risk factors for epilepsy was searched...
July 2017: Neurotoxicology
https://www.readbyqxmd.com/read/26597039/chronological-evolution-of-magnetic-resonance-imaging-findings-in-children-with-febrile-infection-related-epilepsy-syndrome
#16
Marianna S Rivas-Coppola, Namrata Shah, Asim F Choudhri, Robin Morgan, James W Wheless
OBJECTIVE: To describe and analyze the chronological evolution of the radiological findings in seven children with febrile infection-related epilepsy syndrome. METHODS: This is a retrospective study describing the radiological findings and evolution in seven children with febrile infection-related epilepsy syndrome who presented from 2009 to 2013. The children all fit the defined clinical criteria for febrile infection-related epilepsy syndrome; all had a history of normal psychomotor development who presented with acute-onset catastrophic partial status epilepticus associated with a febrile illness or unspecific infectious process...
February 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/26379807/hippocampal-changes-in-febrile-infection-related-epilepsy-syndrome-fires
#17
Amit Agarwal, Shyamsunder Sabat, Krishnamurthy Thamburaj, Sangam Kanekar
BACKGROUND: Febrile seizures are the most common seizure disorder in childhood, associated with a significant rise in body temperature. However, post-infectious refractory afebrile form of seizures in previously healthy children is being increasingly recognized in around the world, which evolves into a chronic refractory form of epilepsy. The term 'Febrile infection-related epilepsy syndrome' (FIRES) has been proposed for these conditions and represents a refractory severe post-infectious epileptic condition in previously normal children...
2015: Polish Journal of Radiology
https://www.readbyqxmd.com/read/26060905/rasmussen-syndrome-and-other-inflammatory-epilepsies
#18
REVIEW
Sophia Varadkar, J Helen Cross
An underlying immune basis is emerging in an increasing number of epileptic and encephalopathic syndromes. The immunopathological mechanisms may be categorized into antibody-mediated, T-cell cytotoxicity, and microglia-induced degeneration. The immune basis in Rasmussen syndrome is thought to be T-cell mediated. Antibodies to extracellular and intracellular epitopes are implicated in limbic and other encephalitides, characterized by seizures, movement disorder, sleep disorder, obtundation, psychosis, mutism, and other psychiatric symptoms...
June 2015: Seminars in Neurology
https://www.readbyqxmd.com/read/25917466/febrile-seizures-and-genetic-epilepsy-with-febrile-seizures-plus-gefs
#19
REVIEW
Peter Camfield, Carol Camfield
To review the literature about febrile seizures and GEFS plus with special emphasis on management and outcome. Selected literature review. Febrile seizures are the most common convulsive event in humans, occurring in 2-6% of the population. The aetiology is complex with strong evidence for a heterogeneous genetic predisposition interacting with fever of any cause, with certain viral infections having a greater effect. A large amount of literature has established that febrile seizures have no long-term consequences on cognition or behaviour...
June 2015: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/25727510/evaluation-and-treatment-of-autoimmune-neurologic-disorders-in-the-pediatric-intensive-care-unit
#20
REVIEW
Leslie A Benson, Heather Olson, Mark P Gorman
Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central nervous system vasculitis, demyelinating disorders, and neurologic involvement of systemic autoimmune disorders. In addition, there are conditions of suspected autoimmune etiology such as febrile infection-related epilepsy syndrome (FIRES) and rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome that are rare, but when they do present, it is often to the ICU...
December 2014: Seminars in Pediatric Neurology
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