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    1022 results match your criteria Pediatrics Febrile Seizures

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    Seizures in Children With Cerebral Palsy and White Matter Injury.
    Pediatrics 2017 Feb 16. Epub 2017 Feb 16.
    The Royal Children's Hospital, Melbourne, Victoria, Australia;
    Objective: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI).

    Methods: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year. Read More

    Unexpected Death of a Child with Complex Febrile Seizures-Pathophysiology Similar to Sudden Unexpected Death in Epilepsy?
    Front Neurol 2017 1;8:21. Epub 2017 Feb 1.
    Pappajohn Biomedical Institute, University of Iowa Carver College of Medicine, Iowa City, IA, USA; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
    Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. Read More

    Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
    Epilepsy Res 2017 Feb 7;131:1-8. Epub 2017 Feb 7.
    Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.
    Objective: Driven by advances in genomic technology and reduction in costs, next-generation sequencing (NGS) is venturing into routine clinical care. The 'real-world' clinical utility of NGS remains to be determined in focal epilepsies, which account for 60% of all epilepsies and for which the importance of genetic factors is just beginning to emerge. We investigated the diagnostic yield and management implications of whole exome sequencing (WES)-based screening of selected genes in the routine care of common focal epilepsies suspected to have a genetic basis. Read More

    Vaccine adverse events in a safety net healthcare system and a managed care organization.
    Vaccine 2017 Mar 6;35(9):1335-1340. Epub 2017 Feb 6.
    Institute for Health Research, Kaiser Permanente Colorado, United States; Ambulatory Care Services, Denver Health, United States; Pediatrics and Epidemiology, University of Colorado, United States.
    Background: The Institute of Medicine, in a 2013 report, recommended that the Vaccine Safety Datalink (VSD) expand collaborations to include more diversity in the study population. Kaiser Permanente Colorado (KPCO), an established VSD site, partnered with Denver Health (DH), an integrated safety net healthcare system, to demonstrate the feasibility of integrating DH data within the VSD. Prior to incorporating the data, we examined the identification of specific vaccine associated adverse events (VAEs) in these two distinct healthcare systems. Read More

    Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
    Epilepsia 2017 Feb 6. Epub 2017 Feb 6.
    The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom.
    Objective: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Read More

    Development and validation of AIIMS modified INCLEN diagnostic instrument for epilepsy in children aged 1 month-18 years.
    Epilepsy Res 2017 Jan 25;130:64-68. Epub 2017 Jan 25.
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
    Objectives: There is shortage of specialists for the diagnosis of children with epilepsy, especially in resource limited settings. Existing INCLEN (International Clinical Epidemiology Network) instrument was validated for children aged 2-9 years. The current study validated modifications of the same including wider symptomatology and age group. Read More

    Profile and clinical characterization of seizures in hospitalized children.
    Pan Afr Med J 2016 16;24:313. Epub 2016 Aug 16.
    Dongchi Zhao, Department of Pediatrics, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, China.
    Introduction: Seizure is the commonest pediatric neurological disorder, which is frightening to caretakers. The current study aims to determine profile, clinical spectrum and analyze the commonest etiology of seizures in children admitted to a tertiary hospital in Central China.

    Methods: This was a hospital based retrospective study carried out in Zhongnan Hospital of Wuhan University, China. Read More

    Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.
    Epilepsia 2017 Jan 18. Epub 2017 Jan 18.
    Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.
    Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. Read More

    Clinical Epidemiology and Treatment of Febrile and Afebrile Convulsions With Mild Gastroenteritis: A Multicenter Study.
    Pediatr Neurol 2017 Feb 3;67:78-84. Epub 2016 Aug 3.
    Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya Clinical Research Center, Nagoya, Aichi, Japan.
    Background: We investigated features and responses to treatment in patients with febrile and afebrile convulsions with mild gastroenteritis and characterized convulsions with rotavirus and norovirus gastroenteritis.

    Methods: We conducted a prospective, observational study to evaluate patients with febrile and afebrile convulsions with mild gastroenteritis who were hospitalized between November 2011 and March 2014 at 13 facilities in the National Hospital Organization. We classified the patients into two groups: presence or absence of fever. Read More

    De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
    Epilepsia 2017 Feb 13;58(2):e26-e30. Epub 2017 Jan 13.
    Department of Medicine, Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
    Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes ranging from mild disorders such as febrile seizures to epileptic encephalopathies (EEs) such as Dravet syndrome (DS). Although DS often occurs with de novo SCN1A pathogenic variants, milder GEFS+ spectrum phenotypes are associated with inherited pathogenic variants. We identified seven cases with non-EE GEFS+ phenotypes and de novo SCN1A pathogenic variants, including a monozygotic twin pair. Read More

    Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients.
    J Biol Regul Homeost Agents 2016 Oct-Dec;30(4):1217-1221
    General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
    Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. Read More

    Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
    Ann Clin Transl Neurol 2017 Jan 20;4(1):26-35. Epub 2016 Dec 20.
    Qatar Biomedical Research InstituteMedical Genetics CenterHamad Bin Khalifa UniversityDohaQatar; PediatricsUniversity of IowaIowa CityIowa; PediatricsUniversity of JordanAmmanJordan.
    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.4514C>T; p. Read More

    Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS(+)) accompanying seizures with impaired consciousness.
    Epilepsy Behav Case Rep 2017 9;7:16-19. Epub 2016 Nov 9.
    Department of Neurosurgery, Graduate School of Medical and Dental Science, Kagoshima University, Kagoshima, Japan.
    Genetic epilepsy with febrile seizures plus (GEFS(+)) is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inheritance. Approximately 10% of individuals with GEFS(+) harbor SCN1A, a gene mutation in one of the voltage-gated sodium channel subunits. Read More

    Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
    Neurology 2017 Jan 4;88(5):483-492. Epub 2017 Jan 4.
    From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
    Objective: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.

    Methods: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs.

    Results: We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families. Read More

    A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S133-S138. Epub 2016 Nov 30.
    Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
    Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Read More

    1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S14-S18. Epub 2016 Nov 30.
    Department of Pediatrics, Dankook University Hospital, Cheonan, Korea.
    Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Read More

    Unexpected marked seizure improvement in paediatric epilepsy surgery candidates.
    Seizure 2016 Dec 1;45:70-73. Epub 2016 Dec 1.
    Department of Paediatrics, University Hospital Rigshospitalet, Copenhagen, Denmark; Danish Epilepsy Centre, Dianalund, Denmark.
    Purpose: Epilepsy surgery is performed based on the assumption that medical refractory epilepsy will continue. Rarely seizure freedom occurs before surgery is performed, while the patient is being evaluated as an epilepsy surgery candidate. The aim of this study was to describe the number of children withdrawn from an epilepsy surgery programme due to unexpected seizure improvement. Read More

    Epidemiology and diagnostic and therapeutic management of febrile seizures in the Italian pediatric emergency departments: A prospective observational study.
    Epilepsy Res 2017 Jan 16;129:79-85. Epub 2016 Nov 16.
    General and Emergency Paediatrics Operative Unit, A.O.U. Policlinico-Vittorio Emanuele, University of Catania, Italy.
    Aim: Febrile seizures (FS) involve 2-5% of the paediatric population, among which Complex FS (CFS) account for one third of accesses for FS in Emergency Departments (EDs). The aim of our study was to define the epidemiology, the clinical, diagnostic and therapeutic approach to FS and CFSs in the Italian EDs.

    Methods: A multicenter prospective observational study was performed between April 2014 and March 2015. Read More

    Febrile Infection-Related Epilepsy Syndrome: Clinical Review and Hypotheses of Epileptogenesis.
    Neuropediatrics 2017 Feb 5;48(1):5-18. Epub 2016 Dec 5.
    Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.
    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. Read More

    An observational study of febrile seizures: the importance of viral infection and immunization.
    BMC Pediatr 2016 Dec 3;16(1):202. Epub 2016 Dec 3.
    School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
    Background: Febrile seizures are common in young children. Annual peaks in incidence mirror increased respiratory virus activity during winter. Limited virological data are available using modern diagnostic techniques for children with febrile seizures. Read More

    Prevalence of non-febrile seizures in children with idiopathic autism spectrum disorder and their unaffected siblings: a retrospective cohort study.
    BMC Neurol 2016 Nov 28;16(1):245. Epub 2016 Nov 28.
    Department of Radiology, Washington University School of Medicine, 4525 Scott Ave., St Louis, MO, 63110, USA.
    Background: Autism spectrum disorder (ASD) is a heterogeneous disorder characterized not only by deficits in communication and social interactions but also a high rate of co-occurring disorders, including metabolic abnormalities, gastrointestinal and sleep disorders, and seizures. Seizures, when present, interfere with cognitive development and are associated with a higher mortality rate in the ASD population.

    Methods: To determine the relative prevalence of non-febrile seizures in children with idiopathic ASD from multiplex and simplex families compared with the unaffected siblings in a cohort of 610 children with idiopathic ASD and their 160 unaffected siblings, participating in the Autism Genetic Resource Exchange project, the secondary analysis was performed comparing the life-time prevalence of non-febrile seizures. Read More

    Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures.
    Epilepsy Res 2017 Jan 14;129:1-7. Epub 2016 Nov 14.
    School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan, ROC. Electronic address:
    Febrile seizure (FS) is the most common type of convulsion in infants and young children. The occurrence of FS in a subset of children with febrile illness suggested genetic factors may have an important effect on the predisposition of the disease. Using targeted next generation sequencing (NGS), a novel splicing variation (NM_198903. Read More

    Neurogenic pulmonary edema combined with febrile seizures in early childhood-A report of two cases.
    IDCases 2016 29;6:90-93. Epub 2016 Oct 29.
    Department of Pediatrics, Nishi-Kobe Medical Center, Kobe, Japan.
    Neurogenic pulmonary edema (NPE) is a clinical entity that can occur following central nervous system disorders. However, NPE occurs quite rarely in early childhood, and there has only been one report about pediatric NPE associated with febrile seizures. Two cases are reported here. Read More

    FHF1 (FGF12) epileptic encephalopathy.
    Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.
    Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.
    Voltage-gated sodium channels (Navs) are mainstays of neuronal function, and mutations in the genes encoding CNS Navs (Nav1.1 [SCN1A], Nav1.2 [SCN2A], Nav1. Read More

    Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
    Epilepsy Res 2016 Dec 25;128:48-51. Epub 2016 Oct 25.
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:
    Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial knockout involving 3 of 5 known FGF13 isoforms. Investigation of a mouse model of complete Fgf13 knock-out revealed increased susceptibility to hyperthermia-induced seizures and epilepsy. Here we investigated whether mutation of FGF13 would explain other cases of GEFS+ compatible with X-linked inheritance. Read More

    TRPV1 deletion exacerbates hyperthermic seizures in an age-dependent manner in mice.
    Epilepsy Res 2016 Dec 25;128:27-34. Epub 2016 Oct 25.
    Department of Pediatrics, University of Calgary, 3330 Hospital Drive NW, Calgary, AB, T2N 4N1, Canada; Alberta Children's Hospital Research Institute, University of Calgary, 3330 Hospital Drive NW, Calgary, AB, T2N 4N1, Canada; Department of Clinical Neuroscience, University of Calgary, 3330 Hospital Drive NW, Calgary, AB, T2N 4N1, Canada. Electronic address:
    Febrile seizures (FS) are the most common seizure disorder to affect children. Although there is mounting evidence to support that FS occur when children have fever-induced hyperventilation leading to respiratory alkalosis, the underlying mechanisms of hyperthermia-induced hyperventilation and links to FS remain poorly understood. As transient receptor potential vanilloid-1 (TRPV1) receptors are heat-sensitive, play an important role in adult thermoregulation and modulate respiratory chemoreceptors, we hypothesize that TRPV1 activation is important for hyperthermia-induced hyperventilation leading to respiratory alkalosis and decreased FS thresholds, and consequently, TRPV1 KO mice will be relatively protected from hyperthermic seizures. Read More

    The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.
    Neuroscientist 2016 Dec 29;22(6):555-562. Epub 2016 Apr 29.
    Division of Epilepsy and Clinical Electrophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
    The cation-Cl(-) cotransporter KCC2, encoded by SLC12A5, is required for the emergence and maintenance of GABAergic fast synaptic inhibition in organisms across evolution. These findings have suggested that KCC2 deficiency might play a role in the pathogenesis human epilepsy, but this has only recently been substantiated by two lines of genetic evidence. The first is the discovery of heterozygous missense polymorphisms in SLC12A5, causing decreased KCC2-dependent Cl(-) extrusion capacity, in an Australian family with inherited febrile seizures and in a French-Canadian cohort with severe genetic generalized epilepsy (GGE). Read More

    Urinary kidney injury molecules in children with febrile seizures.
    Ren Fail 2016 Oct 25;38(9):1377-1382. Epub 2016 Aug 25.
    d Medical School Department of Biochemistry , Dicle University , Diyarbakir , Turkey.
    Objective: Hypoxia occurs following convulsions, and hypoxia is one of the most common causes of acute renal damage. The aim of this study was to investigate urinary levels of kidney injury molecules, including neutrophil gelatinase-associated lipocalin (NGAL), N-acetyl-β-D-glucosaminidase (NAG), and liver-type fatty acid-binding protein (L-FABP) in children with febrile seizures (FS) for the first time.

    Methods: The study included 28 children with FS and 34 age and gender matched healthy children. Read More

    Cognitive functioning one month and one year following febrile status epilepticus.
    Epilepsy Behav 2016 Nov 26;64(Pt A):283-288. Epub 2016 Oct 26.
    Department of Biostatistics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA, United States.
    Objective: The objective of this study was to determine early developmental and cognitive outcomes of children with febrile status epilepticus (FSE) one month and one year after FSE.

    Methods: One hundred ninety four children with FSE were evaluated on measures of cognition, receptive language, and memory as part of the FEBSTAT study and compared with 100 controls with simple febrile seizures (FSs).

    Results: Children with FSE did not differ dramatically on tasks compared with FS controls at one month after FSE but demonstrated slightly weaker motor development (p=0. Read More

    Why Fever Phobia Is Still Common?
    Iran Red Crescent Med J 2016 Aug 5;18(8):e23827. Epub 2016 Jun 5.
    Department of Pediatrics, Turgut Ozal University, Ankara, Turkey.
    Background: Fever is a reliable sign of illness, but it also evokes fear and anxiety. It is not the fever itself but the fear of possible complications and accompanying symptoms that is important for pediatricians and parents.

    Objectives: We aimed to investigate maternal understanding of fever, its potential consequences, and impacts on the treatment of children. Read More

    "Symptomatic" infection-associated acute encephalopathy in children with underlying neurological disorders.
    Brain Dev 2017 Mar 22;39(3):243-247. Epub 2016 Oct 22.
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan. Electronic address:
    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. Read More

    Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion.
    J Neurol Sci 2016 Nov 10;370:39-43. Epub 2016 Sep 10.
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
    Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) occurs in children associated with infection. It is characterized by a prolonged febrile seizure in the first phase, and a cluster of seizures, deterioration of consciousness and the white matter lesions with reduced diffusion in the second phase. The patients often have severe neurological sequelae, but the prognostic indicators remain unknown. Read More

    Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases.
    J Child Neurol 2016 Sep 21. Epub 2016 Sep 21.
    Division of Child Neurology, Pediatric Regional Epilepsy Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    Febrile infection-related epilepsy syndrome (FIRES) is a devastating epilepsy affecting normal children after a febrile illness. FIRES presents with an acute phase with super-refractory status epilepticus and all patients progress to a chronic phase with persistent refractory epilepsy. The typical outcome is severe encephalopathy or death. Read More

    Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders.
    Eur J Med Genet 2017 Jan 13;60(1):72-78. Epub 2016 Sep 13.
    Division of Dysmorphology and Teratology, Department of Pediatrics, University of California, San Diego, USA; Clinical Genetics, Vall d'Hebron Hospital, UAB, Barcelona, Spain.
    Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. Read More

    Quantitative Evaluation of Medial Temporal Lobe Morphology in Children with Febrile Status Epilepticus: Results of the FEBSTAT Study.
    AJNR Am J Neuroradiol 2016 Dec 15;37(12):2356-2362. Epub 2016 Sep 15.
    Biostatistics (S. Sun), Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia.
    Background And Purpose: The pathogenesis of febrile status epilepticus is poorly understood, but prior studies have suggested an association with temporal lobe abnormalities, including hippocampal malrotation. We used a quantitative morphometric method to assess the association between temporal lobe morphology and febrile status epilepticus.

    Materials And Methods: Brain MR imaging was performed in children presenting with febrile status epilepticus and control subjects as part of the Consequences of Prolonged Febrile Seizures in Childhood study. Read More

    New guidelines for management of febrile seizures in Japan.
    Brain Dev 2017 Jan 6;39(1):2-9. Epub 2016 Sep 6.
    Faculty of Health and Medical Sciences, Tokoha University Hamamatsu Campus, Hamamatsu, Japan.
    In 2015, the Japanese Society of Child Neurology released new guidelines for the management of febrile seizures, the first update of such guidelines since 1996. In 1988, the Conference on Febrile Convulsions in Japan published "Guidelines for the Treatment of Febrile Seizures." The Task Committee of the Conference proposed a revised version of the guidelines in 1996; that version released in 1996 was used for the next 19years in Japan for the clinical management of children with febrile seizures. Read More

    Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.
    J Neuropathol Exp Neurol 2016 Oct 9;75(10):981-997. Epub 2016 Sep 9.
    From the Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (HCK, RLH, LT, RD); Epilepsy Genetics Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (AHP); Division of Neuropathology, Beaumont Hospital, Dublin, Ireland (JBC); Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (LAS); Department of Genetics and Genomic Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (IAH, GTB, CB); Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (SPP, SKW); Division of Child Neurology, Nemours Children's Specialty Care, Jacksonville, Florida (HAS); Barrow Neurological Institute, Phoenix Children's Hospital, Department of Child Health, University of Arizona College of Medicine Phoenix Children's Hospital, Phoenix, Arizona (MK); Department of Pathology, University of North Dakota School of Medicine and Health Sciences, Grand Forks, North Dakota (WLK); Department of Cellular Pathology Birmingham Women's Hospital, Birmingham, UK (BH); Division of Mental Health and Wellbeing, University of Warwick, and Coventry and Warwickshire Partnership NHS Trust, Coventry, UK (JG); Office of the Medical Examiner, County of San Diego, California (OJM); Department of Pathology, Rady Children's Hospital, San Diego, California (EAH); Department of Pathology, Baylor College of Medicine, Retired Professor of Pathology, Houston, Texas (DDA); Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, Department of Medicine, Boston Children's Hospital, and Harvard Medical School, Boston, Massachusetts (RDG).
    Sudden infant death syndrome (SIDS) and sudden unexplained death in childhood (SUDC) are defined as sudden death in a child remaining unexplained despite autopsy and death scene investigation. They are distinguished from each other by age criteria, i.e. Read More

    Hippocampal signal abnormality on the first day of illness in acute encephalopathy with biphasic seizures and late reduced diffusion caused by HHV-6 infection.
    Brain Dev 2016 Nov 29;38(10):943-946. Epub 2016 Aug 29.
    Department of Pediatrics, Osaka Medical College, Takatsuki, Osaka, Japan.
    We report a 13-month-old girl who developed acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) with transient reduced diffusion in the hippocampus and anterior commissure on diffusion-weighted imaging (DWI), which was performed on the first day after febrile status epilepticus (FSE) as the initial neurological symptom of AESD. DWI just after late seizures showed high signal intensity lesions in both left hippocampus and anterior commissure, and left extratemporal and occipital subcortical white matter. HHV-6 DNA was positive in both blood and cerebrospinal fluid samples. Read More

    Seizure severity in children with epilepsy is associated with their parents' perception of stigma.
    Epilepsy Behav 2016 Oct 24;63:42-45. Epub 2016 Aug 24.
    Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Japan.
    Aims: To develop and implement interventions to improve the quality of life (QOL) in children with epilepsy, it is important for clinicians and researchers to understand the effects of the children's parents' perception of stigma. The purpose of this study was to identify a relationship between patient clinical characteristics and perception of stigma in the parents of children with epilepsy.

    Methods: Parents of children with epilepsy were recruited from our university hospital between April 1, 2005 and March 31, 2012. Read More

    Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS.
    J Neurol Sci 2016 Sep 16;368:272-6. Epub 2016 Jul 16.
    Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.
    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. Read More

    A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data.
    Brain Dev 2017 Jan 11;39(1):75-79. Epub 2016 Aug 11.
    Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan. Electronic address:
    We report a female patient with Dravet syndrome (DS) with erratic segmental myoclonus, the origin of which was first identified in the cerebral cortex by the detection of myoclonus-associated cortical discharges. The discharges were disclosed through jerk-locked back-averaging of electroencephalogram (EEG) data using the muscle activity of myoclonus as triggers. The detected spikes on the contralateral parieto-central region preceded myoclonic muscle activity in the forearms by 28-46ms. Read More

    Prevalence of Febrile Seizures, Epilepsy, and Other Paroxysmal Attacks in a Swedish Cohort of 4-Year-Old Children.
    Neuropediatrics 2016 Dec 14;47(6):368-373. Epub 2016 Aug 14.
    Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gillberg Neuropsychiatry Centre, Gothenburg, Sweden.
    A questionnaire about any type of seizures was distributed to parents at the children's 4-year health surveillance at Child Healthcare Centers in Gothenburg, Sweden, to analyze the prevalence of febrile seizures (FS), epilepsy, and other paroxysmal attacks. Parents who reported any kind of seizures in their child were subsequently contacted by telephone to confirm the information given and to invite the child to a clinical assessment. In addition, hospital registers and individual records were checked of the appropriate age group as regards a diagnosis of epilepsy or febrile seizures. Read More

    The Association Between Plasma Ferritin Level and Simple Febrile Seizures in Children.
    J Pediatr Hematol Oncol 2016 Oct;38(7):512-6
    Department of Pediatrics, Keçiören Training and Research Hospital, Ankara, Turkey.
    Introduction: We conducted this study to determine the role of iron deficiency (ID) as a risk factor for simple febrile seizure (SFS) in 6- to 60-month-old children.

    Materials And Methods: In this case-control study 100 children aged 6 to 60 months with febrile seizure (FS) (study group) and 100 febrile children without seizures (control group) admitted to Pediatric Departments of Kecioren Training and Research Hospital in between June 2014 and March 2015 were evaluated. Complete blood count, serum iron, plasma ferritin, and total iron binding capacity analyses were performed in children with FS and were compared with controls. Read More

    Effectiveness of Electroconvulsive Therapy for Refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome.
    Neuropediatrics 2017 Feb 19;48(1):45-48. Epub 2016 Jul 19.
    Department of Pediatric Intensive Care Unit, Hospital Universitario de Burgos, Burgos, Spain.
    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. Read More

    Childhood Epilepsy, Febrile Seizures, and Subsequent Risk of ADHD.
    Pediatrics 2016 Aug 13;138(2). Epub 2016 Jul 13.
    National Centre for Register-based Research, Department of Economics, and The Lundbeck Foundation Initiative for Integrative Psychiatric Research-iPSYCH, Aarhus, Denmark; Centre for Integrated Register based Research, CIRRAU, Aarhus University, Aarhus, Denmark; Department of Child and Adolescent Psychiatry, Hospital of Telemark, Kragerø, Norway
    Objectives: Epilepsy, febrile seizures, and attention-deficit/hyperactivity disorder (ADHD) are disorders of the central nervous system and share common risk factors. Our goal was to examine the association in a nationwide cohort study with prospective follow-up and adjustment for selected confounders. We hypothesized that epilepsy and febrile seizures were associated with subsequent ADHD. Read More

    Role of multiplex PCR analysis in children with febrile seizures.
    Wien Med Wochenschr 2016 Jun 20. Epub 2016 Jun 20.
    Medical School, University Hospital of Saarland, 66421, Homburg, Germany.
    Background: The aim of this study was to assess multiplex PCR analysis in detecting causative viruses in children with febrile seizures.

    Methods: The study was a retrospective analysis comparing data from a pre-multiplex era (2009) with a period after the introduction of routine respiratory multiplex analysis (2010-2013) in children with febrile seizures.

    Results: We included 200 children with febrile seizures (mean age: 29. Read More

    Epidemiology of Pediatric Convulsive Status Epilepticus With Fever in the Emergency Department: A Cohort Study of 381 Consecutive Cases.
    J Child Neurol 2016 Sep 8;31(10):1257-64. Epub 2016 Jun 8.
    Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
    Pediatric convulsive status epilepticus with fever is common in the emergency setting but leads to severe neurological sequelae in some patients. To explore the epidemiology of convulsive status epilepticus with fever, a retrospective cohort covering all convulsive status epilepticus cases with fever seen in the emergency department of a tertiary care children's hospital were consecutively collected. Of the 381 consecutive cases gathered, 81. Read More

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