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Febril seizures

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https://www.readbyqxmd.com/read/29335582/differential-roles-of-nav1-2-and-nav1-6-in-regulating-neuronal-excitability-at-febrile-temperature-and-distinct-contributions-to-febrile-seizures
#1
Mingyu Ye, Jun Yang, Cuiping Tian, Qiyu Zhu, Luping Yin, Shan Jiang, Mingpo Yang, Yousheng Shu
Dysregulation of voltage-gated sodium channels (VGSCs) is associated with multiple clinical disorders, including febrile seizures (FS). The contribution of different sodium channel subtypes to environmentally triggered seizures is not well understood. Here we demonstrate that somatic and axonal sodium channels primarily mediated through NaV1.2 and NaV1.6 subtypes, respectively, behave differentially at FT, and might play distinct roles in FS generation. In contrast to sodium channels on the main axonal trunk, somatic ones are more resistant to inactivation and display significantly augmented currents, faster gating rates and kinetics of recovery from inactivation at FT, features that promote neuronal excitabilities...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321710/cytokine-polymorphism-and-hla-genotyping-in-patients-with-temporal-lobe-epilepsy-related-to-hippocampal-sclerosis
#2
Ayşe Altintaş, Çiğdem Özkara, Melis Sohtaoğlu Sevindik, Mustafa Uzan, Çiğdem Kekik Çinar, Ömer Uysal, Fatma Savran Oğuz
Objective: Hippocampal sclerosis (HS) is the most common pathological substrate associated with mesial temporal lobe epilepsy (MTLE), where inflammatory processes are known to play an increasingly important role in the pathogenesis. To further investigate the role of the immune system, both cytokine gene polymorphisms and human leukocyte antigen (HLA) genotyping in patients with MTLE-HS were investigated. Methods: The DNA samples of 100 patients with MTLE-HS and 201 healthy individuals were genotyped for cytokines (IL-6,IL-10, TNF-α, TGF-β1 and IFN-γ) and HLA using polymerase chain reaction (PCR)-SSP and SSO methods...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29317153/should-patients-with-complex-febrile-seizure-be-admitted-for-further-management
#3
Heather Olson, Tiffany Rudloe, Tobias Loddenkemper, Marvin B Harper, Amir A Kimia
BACKGROUND AND AIMS: Children with first complex febrile seizure (CFS) are often admitted for observation. The goals of this study were 1) to assess the risk of seizure recurrence during admission, 2) to determine whether early EEG affects acute management. DESIGN/METHODS: We retrospectively reviewed a cohort of children 6-60months of age admitted from a Pediatric Emergency Department for first CFS over a 15year period. We excluded children admitted for supportive care of their febrile illness...
December 28, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29285950/prrt2-mutations-in-a-cohort-of-chinese-families-with-paroxysmal-kinesigenic-dyskinesia-and-genotype-phenotype-correlation-reanalysis-in-literatures
#4
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
PURPOSE OF THE STUDY: Though rare, children are susceptible to paroxysmal dyskinesias (PxDs) such as paroxysmal kinesigenic dyskinesia (PKD), and infantile convulsions and choreoathetosis (ICCA, also termed PKD/IC). PKD is characterized by recurrent attacks of involuntary movements mostly starting around puberty, and PKD/IC also presents with clusters of non-febrile seizures at ages between 3 and 12 months in addition to symptoms of PKD. Recent studies showed that the cause of PKD or PKD/IC could be proline-rich transmembrane protein 2 (PRRT2) gene mutations...
December 29, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29277331/predictive-value-of-eeg-for-febrile-seizure-recurrence
#5
Alberto M Cappellari, Carolina Brizio, Marta B Mazzoni, Giuseppe Bertolozzi, Federica Vianello, Alessia Rocchi, Massimo Belli, Andrea Nossa, Dario Consonni, Gregorio P Milani, Emilio F Fossali
OBJECTIVE: To define the role of the EEG in predicting recurrence of febrile seizures (FS) in children after a first FS. METHODS: Children with a first simple or complex FS who underwent EEG at our hospital were retrospectively enrolled. EEG recordings were classified in three groups: normal, abnormal (slow activity or epileptiform discharges), and pseudo-petit mal discharge (PPMD) pattern. Children were followed-up for at least three years. RESULTS: A total of 126 patients met the entry criteria, and 113 of them completed the follow-up...
December 22, 2017: Brain & Development
https://www.readbyqxmd.com/read/29229893/prognostic-factors-for-epilepsy-following-first-febrile-seizure-in-saudi-children
#6
Abdullah I Almojali, Anwar E Ahmed, Muhammed Y Bagha
BACKGROUND: Febrile seizure is the most common convulsive event during childhood, but it is generally considered benign. OBJECTIVES: To estimate the rate of epilepsy after first presentation of febrile seizure and to describe factors that can predispose children to have subsequent epilepsy after their first febrile seizure. DESIGN: Retrospective chart review. SETTING: A tertiary care center in Riyadh. PATIENTS AND METHODS: All children whose first febrile seizure developed between 2009-2012, and who were admitted to the pediatric wards...
November 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29223763/dyrk1a-haploinsufficiency-in-mice-causes-autistic-like-features-and-febrile-seizures
#7
Matthieu Raveau, Atsushi Shimohata, Kenji Amano, Hiroyuki Miyamoto, Kazuhiro Yamakawa
Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay. Here we developed a mouse model harboring a frame-shift mutation in Dyrk1a resulting in a protein truncation and elimination of its kinase activity site. Dyrk1a+/- mice showed significant impairments in cognition and cognitive flexibility, communicative ultrasonic vocalizations, and social contacts...
December 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29208169/effect-of-melatonin-on-cytokine-levels-in-a-hyperthermia-induced-febrile-seizure-model
#8
Leyla Aydin, Erkan Yurtcu, Yeşim Korkmaz, Taner Sezer, Ersin Ogus
Higher serum cytokine levels have been reported in children admitted with febrile seizures and in some experimental models. However, other studies have shown that cytokine levels are influenced by melatonin. In this study, we investigated serum cytokine levels in a hyperthermia-induced febrile rat seizure model and the effect of melatonin. A total of 28 male Sprague-Dawley rats were divided into four groups: the control (C) group, healthy melatonin (MT) group, and hyperthermia-induced febrile seizure groups with (HIFS-MT) and without (HIFS) administration of melatonin...
November 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29203057/febrile-infection-related-epilepsy-syndrome-fires-with-super-refractory-status-epilepticus-revealing-autoimmune-encephalitis-due-to-gabaar-antibodies
#9
D Caputo, R Iorio, F Vigevano, L Fusco
BACKGROUND: Febrile infection-related epilepsy syndrome (FIRES) has been described as an epileptic encephalopathy of unknown etiology affecting previously healthy children following febrile illness. Despite large investigations on autoimmune pathogenesis no membrane antibodies has been associated since now. CASE STUDY: We report a 13 years-old girl with negative history for neurological or autoimmune disease that developed at the sixth day of high fever a super-refractory status epilepticus...
November 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29196444/temporal-analysis-of-hippocampal-ca3-gene-co-expression-networks-in-a-rat-model-of-febrile-seizures
#10
Hatylas Azevedo, Nathália Amato Khaled, Paula Santos, Fernanda Bernardi Bertonha, Carlos Alberto Moreira-Filho
Complex febrile seizures during infancy constitute an important risk factor for epilepsy development. However, little is known about the alterations induced by febrile seizures that may turn the brain susceptible to epileptic activity. In this context, the use of animal models of hyperthermic seizures (HS) could allow the temporal analysis of brain molecular changes that arise after febrile seizures. Here, we investigated temporal changes in hippocampal gene co-expression networks during the development of rats submitted to HS...
November 30, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29193663/clinical-and-genetic-characterization-of-ap4b1-associated-spg47
#11
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families...
November 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29186479/febrile-seizures-prior-to-sudden-cardiac-death-a-danish-nationwide-study
#12
Niels Kjær Stampe, Charlotte Glinge, Reza Jabbari, Thea Bjune, Bjarke Risgaard, Jacob Tfelt-Hansen, Bo Gregers Winkel
Aims: Febrile seizure (FS) is a common disorder affecting 2-5% of children up to 5 years of age. The aim of this study was to determine whether FS in early childhood are over-represented in young adults dying from sudden cardiac death (SCD). Methods and results: We included all deaths (n = 4595) nationwide and through review of all death certificates, we identified 245 SCD in Danes aged 1-30 years in 2000-09. Through the usage of nationwide registries, we identified all persons admitted with first FS among SCD cases (14/245; 5...
November 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29185186/correction-to-gender-difference-in-acquired-seizure-susceptibility-in-adult-rats-after-early-complex-febrile-seizures
#13
Yun-Jian Dai, Zheng-Hao Xu, Bo Feng, Ceng-Lin Xu, Hua-Wei Zhao, Deng-Chang Wu, Wei-Wei Hu, Zhong Chen
In the original publication of the article, the representative EEG of female rat pups with FS in Figure 1 C and D was incorrectly intercepted from that of male rat pups. This correction does not affect the conclusions of the paper. Figure 1 has been corrected on the online PDF version and displayed below.
November 28, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/29167084/parent-s-experiences-of-their-children-suffering-febrile-seizures
#14
Emma Westin, Märta Sund Levander
PURPOSE: To explore parents' experiences of their child suffering febrile seizures. DESIGN AND METHOD: Seven mothers and four fathers with experience of one or several febrile seizures in their children were interviewed. A qualitative content analysis with an inductive approach was performed. RESULT: Five themes emerged; emotional experiences, in terms of anxiety and fear, and need for control, need for support, need for acknowledgement and need for comfort...
November 11, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29163352/parahippocampal-involvement-in-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis-a-proof-of-concept-from-memory-guided-saccades
#15
Silvia Colnaghi, Giorgio Beltrami, Guy Poloni, Anna Pichiecchio, Stefano Bastianello, Carlo Andrea Galimberti, Maurizio Versino
Objective: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) may involve extrahippocampal areas of structural damage and dysfunction. The accuracy of medium-term spatial memory can be tested by memory-guided saccades (MGS) to evaluate a functional impairment of the parahippocampal cortex (PHC), while voxel-based morphometry (VBM) analysis can be used to detect a structural damage of the latter region. Methods: MGS with 3- and 30-s memorization delays were compared between 7 patients affected by right MTLE-HS (r-MTLE-HS), 6 patients affected by left MTLE-HS, and 13 healthy controls...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29157835/corrigendum-to-intergenerational-transmission-of-enhanced-seizure-susceptibility-after-febrile-seizures-ebiomedicine-17-2017-206-215
#16
Dengchang Wu, Bo Feng, Yunjian Dai, Xiaohua Wu, Bin Chen, Cenglin Xu, Yangshun Tang, Kang Wang, Shihong Zhang, ShuangWang, Benyan Luo, Zhong Chen
No abstract text is available yet for this article.
November 17, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29149888/correction-to-analysis-of-plasma-multiplex-cytokines-and-increased-level-of-il-10-and-il-1ra-cytokines-in-febrile-seizures
#17
Kyungmin Kim, Byung Ok Kwak, Aram Kwon, Jongseok Ha, Soo-Jin Kim, Sun Whan Bae, Jae Sung Son, Soo-Nyung Kim, Ran Lee
After publication of the article [1], it has been brought to our attention that several of the authors' names were formatted incorrectly in the original version of the article. The corrections are listed below -"Byungok Kwak" should be "Byung Ok Kwak"Soojin Kim" should be "Soo-Jin Kim"Sunwhan Bae" should be "Sun Whan Bae"Jaesung Son" should be "Jae Sung Son"Soonyung Kim" should be "Soo-Nyung Kim"The original version of the article has now been revised.
November 17, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29146655/qualitative-evaluation-of-a-deferred-consent-process-in-paediatric-emergency-research-a-predict-study
#18
Jeremy Furyk, Kristin McBain-Rigg, Kerrianne Watt, Theophilus I Emeto, Richard C Franklin, Donna Franklin, Andreas Schibler, Stuart R Dalziel, Franz E Babl, Catherine Wilson, Natalie Phillips, Robin Ray
BACKGROUND: A challenge of conducting research in critically ill children is that the therapeutic window for the intervention may be too short to seek informed consent prior to enrolment. In specific circumstances, most international ethical guidelines allow for children to be enrolled in research with informed consent obtained later, termed deferred consent (DC) or retrospective consent. There is a paucity of data on the attitudes of parents to this method of enrolment in paediatric emergency research...
November 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#19
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29129156/a-case-of-kcnq2-associated-movement-disorder-triggered-by-fever
#20
Radhika Dhamija, Howard P Goodkin, Russell Bailey, Chelsea Chambers, J Nicholas Brenton
The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2...
December 2017: Journal of Child Neurology
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