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    1043 results match your criteria Pediatrics Febrile Seizures

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    Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
    Lancet Neurol 2017 May 5. Epub 2017 May 5.
    Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands. Electronic address:
    Background: People with epilepsy who became seizure-free while taking antiepileptic drugs might consider discontinuing their medication, with the possibility of increased quality of life because of the elimination of adverse events. The risk with this action, however, is seizure recurrence. The objectives of our study were to identify predictors of seizure recurrence and long-term seizure outcomes and to produce nomograms for estimation of individualised outcomes. Read More

    Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
    J Neurogenet 2017 May 2:1-7. Epub 2017 May 2.
    a GeneDx, Inc , Gaithersburg , MD , USA.
    Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0. Read More

    The Spectrum and Burden of Influenza-Associated Neurological Disease in Children: Combined Encephalitis and Influenza Sentinel Site Surveillance from Australia 2013-2015.
    Clin Infect Dis 2017 Apr 29. Epub 2017 Apr 29.
    Sydney Medical School, University of Sydney, NSW.
    Background.: There are few longitudinal studies of seasonal influenza associated neurological disease (IAND) and none from the Southern hemisphere.

    Methods. Read More

    Plasma cytokines associated with febrile status epilepticus in children: A potential biomarker for acute hippocampal injury.
    Epilepsia 2017 Apr 27. Epub 2017 Apr 27.
    Department of Biostatistics and International Epilepsy Consortium, Virginia Commonwealth University, Richmond, Virginia, U.S.A.
    Objective: Our aim was to explore the association between plasma cytokines and febrile status epilepticus (FSE) in children, as well as their potential as biomarkers of acute hippocampal injury.

    Methods: Analysis was performed on residual samples of children with FSE (n = 33) as part of the Consequences of Prolonged Febrile Seizures in Childhood study (FEBSTAT) and compared to children with fever (n = 17). Magnetic resonance imaging (MRI) was obtained as part of FEBSTAT within 72 h of FSE. Read More

    Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.
    Ann Clin Lab Sci 2017 Mar;47(2):229-235
    Department of Pediatrics, Nowon Eulji Medical Center, Eulji University, Seoul, Republic of Korea
    Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Read More

    Therapeutic burst-suppression coma in pediatric febrile refractory status epilepticus.
    Brain Dev 2017 Apr 19. Epub 2017 Apr 19.
    Division of Pediatric Neurology, Chang Gung Children's Hospital and Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Chang Gung Children's Hospital Study Group for Children with Encephalitis/Encephalopathy Related Status Epilepticus and Epilepsy (CHEESE), Taoyuan, Taiwan. Electronic address:
    Background: Evidence for the beneficial effect of therapeutic burst-suppression coma in pediatric patients with febrile refractory status epilepticus is limited, and the clinical outcomes of this treatment strategy are largely unknown. Therefore, the aim of this study was to explore the outcomes of therapeutic burst-suppression coma in a series of children with febrile refractory status epilepticus.

    Methods: We retrospectively reviewed consecutive pediatric patients with febrile refractory status epilepticus admitted to our pediatric intensive care unit between January 2000 and December 2013. Read More

    Febrile status epilepticus due to respiratory syncytial virus infection.
    Pediatr Int 2017 Apr 19. Epub 2017 Apr 19.
    Department of Pediatrics, Asahi General Hospital, Chiba, Japan.
    Background: Febrile status epilepticus can have neurological sequelae. The type of sequelae, however, may depend on the etiology, including infections by viral agents such as the influenza virus. Respiratory syncytial virus (RSV) infection in childhood suggests a similar role for this pathogen. Read More

    Comparing Practice Patterns Between Pediatric and General Emergency Medicine Physicians: A Scoping Review.
    Pediatr Emerg Care 2017 Apr;33(4):278-286
    From the *Department of Pediatrics, Albert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY; †Department of Pediatrics, Johns Hopkins University, Baltimore, MD; ‡Department of Pediatrics, Cohens Children's Hospital, Hofstra, Manhasset, NY; §Department of Pediatrics, University of Massachusetts School of Medicine, Worcester, MA; ∥Department of Pediatrics, Alpert Medical School of Brown University, Providence, RI; and ¶Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
    Objective: Acutely ill infants and children presenting to the emergency department are treated by either physicians with pediatric emergency medicine (PEM) training or physicians without PEM training, a good proportion of which are general emergency medicine-trained physicians (GEDPs). This scoping review identified published literature comparing the care provided to infants and children (≤21 years of age) by PEM-trained physicians to that provided by GEDPs.

    Methods: The search was conducted in 2 main steps as follows: (1) initial literature search to identify available literature with evolving feedback from the group while simultaneously deciding search concepts as well as inclusion and exclusion criteria and (2) modification of search concepts and conduction of search using finalized concepts as well as review and selection of articles for final analysis using set inclusion criteria. Read More

    Increased interleukin-1β and basic fibroblast growth factor levels in the cerebrospinal fluid during human herpesvirus-6B (HHV-6B) encephalitis.
    Biochem Biophys Res Commun 2017 May 22;486(3):706-711. Epub 2017 Mar 22.
    Department of Virology, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo 105-8461, Japan.
    Human herpesvirus 6B (HHV-6B) causes exanthema subitum in infants and is known to be mildly pathogenic. However, HHV-6B infection can induce febrile seizures in a high percentage of patients, and in rare cases, result in encephalitis. We detected higher levels of interleukin (IL)-1β and basic fibroblast growth factor (bFGF) in the cerebrospinal fluid (CFS) of patients with HHV-6B encephalitis when compared to those in patients with non-HHV-6B-induced febrile seizures. Read More

    Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.
    Brain Dev 2017 Mar 20. Epub 2017 Mar 20.
    Department of Pediatrics, Kyungpook National University Children's Hospital, Daegu, South Korea. Electronic address:
    Background: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation. Read More

    Interleukin-1β and interleukin-1receptor antagonist polymorphisms in Egyptian children with febrile seizures: A case-control study.
    Medicine (Baltimore) 2017 Mar;96(11):e6370
    aDepartment of Pediatrics bDepartment of Pediatrics, Faculty of Medicine, Cairo University cDepartment of Pediatrics, Faculty of Medicine, Aswan University dDepartment of Clinical pathology eDepartment of Microbiology and Immunology fDepartment of Internal Medicine, Faculty of Medicine, Zagazig University, Egypt.
    Febrile seizure is the most common seizure disorder of childhood. Of the pro-inflammatory cytokines, interleukin-1 is defined as the first endogenous pyrogen.We designed this study to investigate single-nucleotide polymorphisms (SNPs) situated at positions -31 (C/T), and -511 (C/T) of interleukin-1beta (IL-1β) gene promoter and interleukin-1receptor antagonist (IL-1RA) gene variable number of tandem repeats in intron 2 (VNTR); to determine whether these polymorphisms could be a marker of susceptibility to febrile seizures in Egyptian children and we also measured the serum level of IL-1β to assess its relation to such polymorphisms. Read More

    Enduring Memory Impairments Provoked by Developmental Febrile Seizures Are Mediated by Functional and Structural Effects of Neuronal Restrictive Silencing Factor.
    J Neurosci 2017 Apr 8;37(14):3799-3812. Epub 2017 Mar 8.
    Departments of Anatomy/Neurobiology,
    In a subset of children experiencing prolonged febrile seizures (FSs), the most common type of childhood seizures, cognitive outcomes are compromised. However, the underlying mechanisms are unknown. Here we identified significant, enduring spatial memory problems in male rats following experimental prolonged FS (febrile status epilepticus; eFSE). Read More

    Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
    BMC Neurol 2017 Feb 28;17(1):47. Epub 2017 Feb 28.
    Department of Neurology, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 5731010, Japan.
    Background: Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.

    Case Presentation: We herein describe a 15-year-old boy with MTHFR deficiency who presented with a slowly progressive decline of school performance and a spastic gait. Rapidly deteriorating psychosis and repetitive seizures triggered by a febrile infection prompted neurological investigation. Read More

    Parental stress, pediatric quality of life, and behavior at baseline and one-year follow-up: Results from the FEBSTAT study.
    Epilepsy Behav 2017 Apr 23;69:95-99. Epub 2017 Feb 23.
    Department of Biostatistics, Virginia Commonwealth University, Richmond, VA 23298, USA.
    Febrile status epilepticus is a serious and frightening event in the life of the child and parent. It is regarded as a medical emergency with potential long lasting consequences. The purpose of this study was to look at the immediate and long term effects of such an event on parental stress and parents' perception of their child's physical and psychosocial wellbeing. Read More

    Myoclonic Absence Seizures in Dravet Syndrome.
    Pediatr Neurol 2017 May 24;70:67-69. Epub 2017 Jan 24.
    Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, Heidelberg, VIC, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia. Electronic address:
    Background: Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more than 80% of affected individuals. The core clinical features of Dravet syndrome include febrile and afebrile seizures beginning before 12 months; multiple seizure types, usually medically refractory, including hemiclonic, generalized tonic-clonic, focal impaired awareness, myoclonic, and absence seizures; status epilepticus; and normal early development with plateau or regression by age two years. Myoclonic absence seizures have not previously been described. Read More

    Seizures in Children With Cerebral Palsy and White Matter Injury.
    Pediatrics 2017 Mar 16;139(3). 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 Mar 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 Apr 6;58(4):565-575. 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 Feb 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 Mar 18;58(3):e40-e43. 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 2017 Feb 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 2017 Jan 29;32(1):35-40. Epub 2016 Sep 29.
    1 Division of Child Neurology, Pediatric Regional Epilepsy Program, Children's Hospital of Philadelphia, 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

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