{"Name":"Febrile infection-related epilepsy syndrome","DiseaseID__c":"GARD:0011005","id":11005,"encodedName":"febrile-infection-related-epilepsy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Febrile infection-related epilepsy syndrome","Xref_IDs__c":"725413002; C4049262; MEDGEN:1381987; MONDO:0015584; ORPHA:163703","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015584","Disease_Description__c":"A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.","GARD_Name__c":"Febrile infection-related epilepsy syndrome","GARD_Synonym__c":"acute encephalitis with refractory repetitive partial seizures; acute non-herpetic encephalitis with severe refractory status epilepticus; aerrps; desc syndrome; devastating epileptic encephalopathy in school-aged children; febrile infection related epilepsy syndrome; febrile infection-related epilepsy syndrome (fires); fever-induced refractory epileptic encephalopathy in school-aged children; fires; fires - febrile infection-related epilepsy syndrome; idiopathic catastrophic epileptic encephalopathy; severe refractory status epilepticus owing to presumed encephalitis","Curated_Disease_Description_Source__c":"GARD:0011005","Curated_Disease_Description__c":"FIRES (Febrile infection-related epilepsy syndrome) is a sub-type of cryptogenic new-onset refractory status epilepticus (NORSE). NORSE describes a condition in which a healthy person who has not had seizures before, begins having seizures. Over a few days, the seizures increase in frequency and length and evolve into status epilepticus (SE). SE is a prolonged seizure or cluster of seizures during which a person does not regain consciousness between seizures. The seizure activity is considered refractory because it cannot be controlled with standard anti-seizure medications. Cryptogenic means all possible known causes have been ruled out. People with the sub-type FIRES have a fever a day to two weeks before the beginning of the seizures. The fever may or may not be present when SE begins, but no infection can be found to be causing SE. SE can last for days, weeks, or even months. Of note, FIRES previously was considered a separate condition that occurred only in children, while NORSE was described only in adults. However, there is now consensus that FIRES and NORSE without a prior fever can both be described in people of any age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:163703","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015584","ORPHANET_ID__c":"ORPHA:163703","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome epiléptico asociado a infección febril","Spanish_Description_Source__c":"ORPHA:163703","Spanish_Description__c":"Es una encefalopatía epiléptica poco frecuente, potencialmente mortal, caracterizada por la aparición explosiva de crisis tónico-clónicas recurrentes, multifocales y bilaterales, desencadenadas por una enfermedad febril inespecífica. El síndrome se desarrolla sin una causa estructural, tóxica o metabólica aguda clara, en un paciente sin epilepsia previa. El FIRES es un subgrupo del estado epiléptico refractario de nueva aparición (NORSE), y requiere de una infección febril precedente como característica obligada.","Spanish_Disease_Name__c":"síndrome epiléptico asociado a infección febril","Spanish_GARD_Synonym__c":"aerrps; encefalitis aguda con crisis parciales recurrentes refractarias; encefalitis no herpética aguda con estado epiléptico refractario grave; encefalopatía epiléptica catastrófica en niños en edad escolar; encefalopatía epiléptica refractaria inducida por fiebre en niños en edad escolar; fires; síndrome desc","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"FIRES (Febrile infection-related epilepsy syndrome) is a sub-type of cryptogenic new-onset refractory status epilepticus (NORSE). NORSE describes a condition in which a healthy person who has not had seizures before, begins having seizures. Over a few days, the seizures increase in frequency and length and evolve into status epilepticus (SE). SE is a prolonged seizure or cluster of seizures during which a person does not regain consciousness between seizures. The seizure activity is considered refractory because it cannot be controlled with standard anti-seizure medications. Cryptogenic means all possible known causes have been ruled out. People with the sub-type FIRES have a fever a day to two weeks before the beginning of the seizures. The fever may or may not be present when SE begins, but no infection can be found to be causing SE. SE can last for days, weeks, or even months. Of note, FIRES previously was considered a separate condition that occurred only in children, while NORSE was described only in adults. However, there is now consensus that FIRES and NORSE without a prior fever can both be described in people of any age.","Curated_Disease_Description_Source__c":"GARD:0011005","GARD_Synonym__c":"acute encephalitis with refractory repetitive partial seizures; acute non-herpetic encephalitis with severe refractory status epilepticus; aerrps; desc syndrome; devastating epileptic encephalopathy in school-aged children; febrile infection related epilepsy syndrome; febrile infection-related epilepsy syndrome (fires); fever-induced refractory epileptic encephalopathy in school-aged children; fires; fires - febrile infection-related epilepsy syndrome; idiopathic catastrophic epileptic encephalopathy; severe refractory status epilepticus owing to presumed encephalitis","Name":"Febrile infection-related epilepsy syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Association Paratonnerre","Website__c":"http://associationparatonnerre.org/"},{"Account_Name__c":"Epilepsy Action","Website__c":"https://www.epilepsy.org.uk/"},{"Account_Name__c":"NORSE Institute","Website__c":"https://www.norseinstitute.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:163703"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725413002","Source__c":"C4049262; MONDO:0015584","Xref__c":"725413002"},{"URL__c":"https://www.orpha.net/en/disease/detail/163703","Source__c":"C4049262; MONDO:0015584; ORPHA:163703","Xref__c":"ORPHA:163703"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4049262","Source__c":"C4049262","Xref__c":"C4049262"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1381987","Source__c":"C4049262","Xref__c":"MEDGEN:1381987"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015584","Source__c":"GARD:0011005","Xref__c":"MONDO:0015584"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rapid and unexpected death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001699","HPO_Name__c":"Sudden death","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163703","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["acute encephalitis with refractory repetitive partial seizures"," acute non-herpetic encephalitis with severe refractory status epilepticus"," aerrps"," desc syndrome"," devastating epileptic encephalopathy in school-aged children"," febrile infection related epilepsy syndrome"," febrile infection-related epilepsy syndrome (fires)"," fever-induced refractory epileptic encephalopathy in school-aged children"," fires"," fires - febrile infection-related epilepsy syndrome"," idiopathic catastrophic epileptic encephalopathy"," severe refractory status epilepticus owing to presumed encephalitis"]}