Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES)

Basic mechanisms of catastrophic epilepsy – Overview from animal models

(2013) Aristea S. Galanopoulou   BRAIN & DEVELOPMENT

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

(2013) Seung Tae Baek et al.   CURRENT OPINION IN NEUROLOGY

CPP-115, a vigabatrin analogue, decreases spasms in the multiple-hit rat model of infantile spasms

(2013) Stephen W. Briggs et al.   EPILEPSIA

Reduction of seizure frequency after epilepsy surgery in a patient withSTXBP1encephalopathy and clinical description of six novel mutation carriers

(2013) Sarah Weckhuysen et al.   EPILEPSIA

Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis

(2013) Heather E. Olson et al.   EPILEPSIA

Efficacy and tolerability of the galanin analog NAX 5055 in the multiple-hit rat model of symptomatic infantile spasms

(2013) Marine Jequier Gygax et al.   EPILEPSY RESEARCH

Differential expression of interferon-γ and chemokine genes distinguishes Rasmussen encephalitis from cortical dysplasia and provides evidence for an early Th1 immune response

(2013) Geoffrey C Owens et al.   Journal of Neuroinflammation

Inflammasome induction in Rasmussen’s encephalitis: cortical and associated white matter pathogenesis

(2013) Vijay Ramaswamy et al.   Journal of Neuroinflammation

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Rasmussen encephalitis treated with natalizumab

(2013) S. Bittner et al.   NEUROLOGY

Immunity Activation in Brain Cells in Epilepsy: Mechanistic Insights and Pathological Consequences

(2013) Teresa Ravizza et al.   NEUROPEDIATRICS

Treatment Outcomes of West Syndrome in Infants With Down Syndrome

(2013) Oranee Sanmaneechai et al.   PEDIATRIC NEUROLOGY

Detection of human papillomavirus in human focal cortical dysplasia type IIB

(2012) Julie Chen et al.   ANNALS OF NEUROLOGY

An Epilepsy-Related ARX Polyalanine Expansion Modifies Glutamatergic Neurons Excitability and Morphology Without Affecting GABAergic Neurons Development

(2012) Shirley Beguin et al.   CEREBRAL CORTEX

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms

(2012) Pedro R Olivetti et al.   CURRENT OPINION IN NEUROBIOLOGY

Febrile infection-related epilepsy syndrome (FIRES) is not caused bySCN1A, POLG, PCDH19mutations or rare copy number variations

(2012) SILKE APPENZELLER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Evolution of the EEG in children with Rasmussen’s syndrome

(2012) Francesca Longaretti et al.   EPILEPSIA

Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis

(2012) Jan Wagner et al.   EPILEPSIA

Mitochondrial diseases and epilepsy

(2012) Laurence A. Bindoff et al.   EPILEPSIA

Rasmussen encephalitis: Incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins

(2012) Christian G. Bien et al.   EPILEPSIA

Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency

(2012) Sonya U. Steele et al.   EPILEPSY & BEHAVIOR

Effects of adrenal dysfunction and high-dose adrenocorticotropic hormone on NMDA-induced spasm seizures in young Wistar rats

(2012) Ya-Jie Wang et al.   EPILEPSY RESEARCH

The Current Evaluation and Treatment of Infantile Spasms Among Members of the Child Neurology Society

(2012) John R. Mytinger et al.   JOURNAL OF CHILD NEUROLOGY

Autoimmune Encephalitis in Children

(2012) Thaís Armangue et al.   JOURNAL OF CHILD NEUROLOGY

Innate immunity in the central nervous system

(2012) Richard M. Ransohoff et al.   JOURNAL OF CLINICAL INVESTIGATION

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Evidence-based guideline update: Medical treatment of infantile spasms: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2012) C. Y. Go et al.   NEUROLOGY

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Microglia Sculpt Postnatal Neural Circuits in an Activity and Complement-Dependent Manner

(2012) Dorothy P. Schafer et al.   NEURON

Febrile Infection-Related Epilepsy Syndrome without Detectable Autoantibodies and Response to Immunotherapy: A Case Series and Discussion of Epileptogenesis in FIRES

(2012) Andreas van Baalen et al.   NEUROPEDIATRICS

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies

(2011) JEHAN SULEIMAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation

(2011) Nicola Specchio et al.   EPILEPSIA

Prenatal stress promotes development of spasms in infant rats

(2011) Mi-Sun Yum et al.   EPILEPSIA

Febrile infection-related epilepsy syndrome (FIRES): Does duration of anesthesia affect outcome?

(2011) Uri Kramer et al.   EPILEPSIA

Febrile infection-related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome

(2011) Uri Kramer et al.   EPILEPSIA

Carisbamate acutely suppresses spasms in a rat model of symptomatic infantile spasms

(2011) Tomonori Ono et al.   EPILEPSIA

A pulse rapamycin therapy for infantile spasms and associated cognitive decline

(2011) Emmanuel Raffo et al.   NEUROBIOLOGY OF DISEASE

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Genetic and Biologic Classification of Infantile Spasms

(2011) Alex R. Paciorkowski et al.   PEDIATRIC NEUROLOGY

How Many Cell Types Does It Take to Wire a Brain?

(2011) R. M. Ransohoff et al.   SCIENCE

The growing recognition of immunotherapy-responsive seizure disorders with autoantibodies to specific neuronal proteins

(2010) Angela Vincent et al.   CURRENT OPINION IN NEUROLOGY

Rasmussen's encephalitis

(2010) Neil Gordon   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification2

(2010) John P. Osborne et al.   EPILEPSIA

Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)

(2010) Rima Nabbout et al.   EPILEPSIA

Febrile infection-related epilepsy syndrome (FIRES): A nonencephalitic encephalopathy in childhood

(2010) Andreas Van Baalen et al.   EPILEPSIA

Infantile spasms: A U.S. consensus report

(2010) John M. Pellock et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

(2010) Ksenia A. Orlova et al.   JOURNAL OF CLINICAL INVESTIGATION

18F-FDG PET Reveals Frontotemporal Dysfunction in Children with Fever-Induced Refractory Epileptic Encephalopathy

(2010) M. Mazzuca et al.   JOURNAL OF NUCLEAR MEDICINE

Increased level of serum interleukin-1 receptor antagonist subsequent to resolution of clinical symptoms in patients with West syndrome

(2010) Gaku Yamanaka et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The Human Papillomavirus Type 16 E6 Oncoprotein Activates mTORC1 Signaling and Increases Protein Synthesis

(2010) J. M. Spangle et al.   JOURNAL OF VIROLOGY

Acute encephalopathy with inflammation-mediated status epilepticus

(2010) Rima Nabbout et al.   LANCET NEUROLOGY

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

Anti-NMDA receptor encephalitis presenting with imaging findings and clinical features mimicking Rasmussen syndrome

(2010) Hansel Greiner et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Microglial Physiology: Unique Stimuli, Specialized Responses

(2009) Richard M. Ransohoff et al.   Annual Review of Immunology

CD8+ T-cell clones dominate brain infiltrates in Rasmussen encephalitis and persist in the periphery

(2009) Nicholas Schwab et al.   BRAIN

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN

Peripheral lymphocyte subset and serum cytokine profiles of patients with West syndrome

(2009) Takashi Shiihara et al.   BRAIN & DEVELOPMENT

Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis

(2009) Nicola Specchio et al.   BRAIN & DEVELOPMENT

The ketogenic diet improves recently worsened focal epilepsy

(2009) NATHALIE VILLENEUVE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The natural history of epilepsy in tuberous sclerosis complex

(2009) Catherine J. Chu-Shore et al.   EPILEPSIA

Treatment of Rasmussen encephalitis half a century after its initial description: Promising prospects and a dilemma

(2009) Christian G. Bien et al.   EPILEPSY RESEARCH

Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome

(2009) Kazuhiro Haginoya et al.   EPILEPSY RESEARCH

Early control of seizures improves long-term outcome in children with tuberous sclerosis complex

(2009) Roberta Bombardieri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A Triplet Repeat Expansion Genetic Mouse Model of Infantile Spasms Syndrome, Arx(GCG)10+7, with Interneuronopathy, Spasms in Infancy, Persistent Seizures, and Adult Cognitive and Behavioral Impairment

(2009) M. G. Price et al.   JOURNAL OF NEUROSCIENCE

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

A case of Rasmussen encephalitis treated with rituximab

(2009) Barbara Thilo et al.   Nature Reviews Neurology

A model of symptomatic infantile spasms syndrome

(2009) Morris H. Scantlebury et al.   NEUROBIOLOGY OF DISEASE

Dual pathology in Rasmussen's encephalitis: A study of seven cases and review of the literature

(2009) Hidehiro Takei et al.   NEUROPATHOLOGY

Infantile Spasms and Down Syndrome: A New Animal Model

(2009) Miguel A Cortez et al.   PEDIATRIC RESEARCH

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

The role of cytokines in the pathophysiology of epilepsy

(2008) Annamaria Vezzani et al.   BRAIN BEHAVIOR AND IMMUNITY

Autoantibodies to Munc18, cerebral plasma cells and B-lymphocytes in Rasmussen encephalitis

(2008) Elena Alvarez-Barón et al.   EPILEPSY RESEARCH

A retrospective study on aetiology based outcome of infantile spasms

(2008) Georges Karvelas et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Rasmussen encephalitis associated withSCN1Amutation

(2007) Iori Ohmori et al.   EPILEPSIA

A new animal model of infantile spasms with unprovoked persistent seizures

(2007) Chong L. Lee et al.   EPILEPSIA