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Febrile seizures

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https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#1
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28898171/febrile-infection-related-epilepsy-syndrome-fires-a-literature-review-and-case-study
#2
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/28888331/hamartia-in-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#3
REVIEW
K L Gawelek, J M Gales, R A Prayson
Hamartia are small collections of rounded glioneuronal cells that are thought to be due to aberrant cell migration. Their presence has been recognized in association with mesial temporal lobe epilepsy; their prevalence among cases of hippocampal sclerosis (HS) and any potential association with patient demographics and outcomes is unknown. This study examines hamartia in a series of 292 patients with pathologically confirmed HS. Medical records were reviewed for pertinent patient clinical information (follow-up mean 5years)...
September 6, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28883873/circadian-rhythm-and-the-seasonal-variation-in-childhood-febrile-seizure
#4
Reza Sharafi, Afagh Hassanzadeh Rad, Vahid Aminzadeh
OBJECTIVE: We aimed to assess the circadian rhythm and the seasonal variation in childhood febrile seizure (FS). MATERIALS & METHODS: This descriptive cross-sectional study was conducted retrospectively on patients' records. Investigators assessed the records of patients with simple FS aged 6 to 60 months referred to Emergency Department of 17-Shahrivar Hospital, Rasht northern Iran during Jan 2010 to Jan 2013. Data were gathered by a checklist including age, sex, temperature, duration of seizure, seasonal, months, diurnal variation, and level of consciousness...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28880996/dravet-syndrome-and-its-mimics-beyond-scn1a
#5
REVIEW
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences...
September 7, 2017: Epilepsia
https://www.readbyqxmd.com/read/28879430/high-mobility-group-box-1-enhances-hyperthermia-induced-seizures-and-secondary-epilepsy-associated-with-prolonged-hyperthermia-induced-seizures-in-developing-rats
#6
Masanori Ito, Hisaaki Takahashi, Hajime Yano, Yusuke I Shimizu, Yoshiaki Yano, Yoshito Ishizaki, Junya Tanaka, Eiichi Ishii, Mitsumasa Fukuda
Levels of high mobility group box 1 (HMGB1), an important inflammatory mediator, are high in the serum of febrile seizure (FS) patients. However, its roles in FS and secondary epilepsy after prolonged FS are poorly understood. We demonstrate HMGB1's role in the pathogenesis of hyperthermia-induced seizures (HS) and secondary epilepsy after prolonged hyperthermia-induced seizures (pHS). In the first experiment, 14-15-day-old male rats were divided into four groups: high-dose HMGB1 (100 μg), moderate-dose (10 μg), low-dose (1 μg), and control...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28870844/inhibitory-synapse-deficits-caused-by-familial-%C3%AE-1-gabaa-receptor-mutations-in-epilepsy
#7
Xiumin Chen, Nela Durisic, Joseph W Lynch, Angelo Keramidas
Epilepsy is a spectrum of neurological disorders with many causal factors. The GABA type-A receptor (GABAAR) is a major genetic target for heritable human epilepsies. Here we examine the functional effects of three epilepsy-causing mutations to the α1 subunit (α1(T10'I), α1(D192N) and α1(A295D)) on inhibitory postsynaptic currents (IPSCs) mediated by the major synaptic GABAAR isoform, α1β2γ2L. We employed a neuron - HEK293 cell heterosynapse preparation to record IPSCs mediated by mutant-containing GABAARs in isolation from other GABAAR isoforms...
September 1, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28843235/association-of-the-single-nucleotide-polymorphisms-of-the-genes-encoding-il-2-and-ifn-%C3%AE-with-febrile-seizure
#8
Amin Shahrokhi, Ameneh Zare-Shahabadi, Mohammad Naeimi Poor, Firouzeh Sajedi, Samaneh Soltani, Samaneh Zoghi, Reza Shervin Badv, Mahmoud Reza Ashrafi, Nima Rezaei
Inflammatory elements and genetics have major roles in febrile seizures (FS) pathogenesis. Seventy patients were enrolled and compared with 139 controls. The allele and genotype frequency of the IL-2 gene at -330 and +166 positions and the IFN-γ at +874 position were determined. A significant positive association with GG genotype at position -330 in the patient group was found (P=0.003). Further, a positive association was detected in simple and complex FS groups at the same position (P=0.03, P=0.004). IL-2 GT haplotype was significantly more common in the patients compared to controls (P=0...
June 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28842445/genetic-epilepsy-with-febrile-seizures-plus-refining-the-spectrum
#9
Yue-Hua Zhang, Rosemary Burgess, Jodie P Malone, Georgie C Glubb, Katherine L Helbig, Lata Vadlamudi, Sara Kivity, Zaid Afawi, Andrew Bleasel, Padraic Grattan-Smith, Bronwyn E Grinton, Susannah T Bellows, Danya F Vears, John A Damiano, Hadassa Goldberg-Stern, Amos D Korczyn, Leanne M Dibbens, Elizabeth K Ruzzo, Michael S Hildebrand, Samuel F Berkovic, Ingrid E Scheffer
OBJECTIVE: Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum. METHODS: We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS+ genes was carried out where possible. We compared our phenotypic and genetic data to those published in the literature over the last 19 years...
August 25, 2017: Neurology
https://www.readbyqxmd.com/read/28838686/use-of-high-b-value-diffusion-weighted-magnetic-resonance-imaging-in-acute-encephalopathy-encephalitis-during-childhood
#10
Yoshiko Tsubouchi, Shinji Itamura, Yoshiaki Saito, Eijiro Yamashita, Yuki Shinohara, Tetsuya Okazaki, Koyo Ohno, Yoko Nishimura, Masayoshi Oguri, Yoshihiro Maegaki
AIM: To determine the use of high b value diffusion-weighted imaging (DWI) in the diagnosis and assessment of acute febrile encephalopathy/encephalitis in childhood. SUBJECTS AND METHODS: We enrolled 22 children, for whom we examined DWI with b=1000s/mm(2), DWI with b=3000s/mm(2), and apparent diffusion coefficient (ADC) map with b=1000 during the acute phase of febrile encephalopathy/encephalitis. Clinical diagnoses included acute encephalopathy with biphasic seizures and late reduced diffusion (AESD; n=6), clinically mild encephalopathy/encephalitis with a reversible splenial lesion (MERS; n=6), and herpes simplex virus encephalitis (HSE; n=3), unclassified acute encephalopathy/acute encephalitis (n=2); acute encephalitis with refractory, repetitive partial seizures (AERRPS; n=1); other encephalopathy (n=1); infarction (n=1); head injury (n=1); or mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (n=1)...
August 21, 2017: Brain & Development
https://www.readbyqxmd.com/read/28822872/different-mossy-fiber-sprouting-patterns-in-ilae-hippocampal-sclerosis-types
#11
Barbara Schmeiser, Jinmei Li, Armin Brandt, Josef Zentner, Soroush Doostkam, Thomas M Freiman
OBJECTIVE: Hippocampal sclerosis (HS) is the most prevalent pathology in temporal lobe epilepsy (TLE) characterized by segmental neuronal cell loss in the cornu ammonis (CA) 1-4. In addition, migration of granule cells and reorganization of their axons is observed, known as granule cell dispersion (GCD) and mossy fiber sprouting (MFS). The loss of mossy fibers` (MF) target cells in CA4 and CA3 was considered to be causative for MFS. The ILAE HS (International League Against Epilepsy) classification identifies three subtypes with different cell loss patterns in CA1-4...
August 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28808794/thiol-disulfide-homeostasis-as-a-novel-indicator-of-oxidative-stress-in-children-with-simple-febrile-seizures
#12
Bahri Elmas, Özcan Erel, Dilek Ersavaş, Yusuf Yürümez
Simple febrile seizures are generally benign, but during the seizure, elevated levels of glutamate and high levels of oxygen use due to the high metabolic brain activity result in oxidative stress. However, the relationship between febrile seizures and oxidative stress remains unclear. In this study, we investigated thiol/disulfide homeostasis as a new oxidative stress parameter in patients with simple febrile seizures. This study was performed between February 2016 and May 2016 at the Pediatric Emergency Unit...
August 14, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28806450/evaluation-of-combination-measles-mumps-rubella-varicella-vaccine-introduction-in-australia
#13
Kristine Macartney, Heather F Gidding, Lieu Trinh, Han Wang, Aditi Dey, Brynley Hull, Karen Orr, Jocelynne McRae, Peter Richmond, Michael Gold, Nigel Crawford, Jennifer A Kynaston, Peter McIntyre, Nicholas Wood
Importance: Incorporating combination vaccines, such as the measles-mumps-rubella-varicella (MMRV) vaccine, into immunization schedules should be evaluated from a benefit-risk perspective. Use of MMRV vaccine poses challenges due to a recognized increased risk of febrile seizures (FSs) when used as the first dose in the second year of life. Conversely, completion by age 2 years of measles, mumps, rubella, and varicella immunization may offer improved disease control. Objective: To evaluate the effect on safety and coverage of earlier (age 18 months) scheduling of MMRV vaccine as the second dose of measles-containing vaccine (MCV) in Australia...
August 14, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28803641/the-assessment-of-risk-factors-for-febrile-seizures-in-children
#14
Krystyna Gontko-Romanowska, Zbigniew Żaba, Paweł Panieński, Barbara Steinborn, Michał Szemień, Magdalena Łukasik-Głębocka, Krystian Ratajczak, Adrian Chrobak, Joanna Mitkowska, Jacek Górny
OBJECTIVE: The aim of the paper was to assess the risk factors of febrile seizures in children. METHODS: The paper presents an analysis of a group of 176 children aged 6 months to 5 years who were admitted to A&E because of febrile seizures. RESULTS: The analysed group of 176 children comprised 61.96% boys and 38.07% girls, and the average age equalled 23 months. Family history was significant in 9.66% of patients. A statistically significant difference was noticed between insignificant family history and the incidence of febrile seizures...
July 31, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28794249/not-all-scn1a-epileptic-encephalopathies-are-dravet-syndrome-early-profound-thr226met-phenotype
#15
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms...
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/28770886/frequency-of-acute-bacterial-meningitis-in-children-with-first-episode-of-febrile-seizures
#16
Hina Batool Siddiqui, Nighat Haider, Zarmast Khan
OBJECTIVE: To determine the frequency of acute bacterial meningitis in children with first episode of febrile seizures. METHODS: This cross-sectional study was conducted at the Polyclinic, Postgraduate Medical Institute, Islamabad, Pakistan, from December 2012 to August 2013, and comprised patients with first episode of fever and seizure. SPSS 10 was used for data analysis. RESULTS: Of the157 patients, 12(7.6%) were diagnosed to have acute bacterial meningitis with 5(41...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28764655/a-case-report-primary-amoebic-meningoencephalitis-in-a-young-zambian-adult
#17
Mashina Chomba, Luchenga A Mucheleng'anga, Sombo Fwoloshi, Joseph Ngulube, Mable M Mutengo
BACKGROUND: Primary amoebic meningoencephalitis (PAM) is a fulminant disease of the brain caused by Naegleria fowleri. Although the disease is rare, the case fatality rate is very high. In this report, we describe the first case of PAM in Zambia. CASE PRESENTATION: The patient presented with sudden onset of seizures and fever on admission. On physical examination he was febrile, comatose and with a stiff neck. Cerebral spinal fluid (CSF) collected on admission did not reveal any organism on microscopy or culture but showed elevated white cell count...
August 1, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28763650/the-effects-of-weather-on-pediatric-seizure-a-single-center-retrospective-study-2005-2015
#18
Sung Hoon Kim, Joon Soo Kim, Mi Hyeon Jin, Jun Hwa Lee
BACKGROUND: Several studies have reported an association between seizure and the weather. However, reports are conflicting. Thus, we investigated whether emergency department visits due to seizure are affected by weather. METHODS: We retrospectively analyzed 108,628 emergency department visits to Samsung Changwon Hospital by pediatric patients from January 2005 to December 2015. Among them, there were 3484 (3.2%) visits for any type of seizure. Seizures were categorized as febrile seizure, afebrile seizure, epilepsy, or status epilepticus...
December 31, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28754226/febrile-seizures-and-epilepsy-association-with-autism-and-other-neurodevelopmental-disorders-in-the-child-and-adolescent-twin-study-in-sweden
#19
Christopher Gillberg, Sebastian Lundström, Elisabeth Fernell, Gill Nilsson, Brian Neville
BACKGROUND: There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. METHODS: The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday...
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28745219/the-influence-of-vaccine-on-febrile-seizure
#20
Xin Li, Yicun Wang
The protective value of vaccines to the public has made vaccines among the major public health prophylactic measures through the entire history. However, there has been some controversy about their safety; particularly concerns have been rising about febrile seizures (FS). Until now, other studies could not prove a causal relationship between FS and vaccination. This relationship is complex by other factors, such as age, genetic inheritance, type of vaccine, combination of different types of vaccines and the timing of vaccination...
July 26, 2017: Current Neuropharmacology
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