{"Name":"New-onset refractory status epilepticus","DiseaseID__c":"GARD:0012244","id":12244,"encodedName":"new-onset-refractory-status-epilepticus","IsDeleted":false,"Disease_Name_Full__c":"New-onset refractory status epilepticus","Xref_IDs__c":"770758009; C4749462; MEDGEN:1657271; MONDO:0018199; ORPHA:363558","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018199","Disease_Description__c":"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.","GARD_Name__c":"New-onset refractory status epilepticus","GARD_Synonym__c":"norse; norse - new-onset refractory status epilepticus","Curated_Disease_Description_Source__c":"GARD:0012244","Curated_Disease_Description__c":"New-onset refractory status epilepticus (NORSE) occurs when a person without a previous history of seizures, experiences status epilepticus (SE) without a clear cause. SE describes a state in which a person has one prolonged seizure, or a cluster of seizures without recovery time in between. The symptoms of NORSE typically begin with a mild fever and general symptoms of illness. People with NORSE may also experience behavioral and cognitive symptoms. SE associated with NORSE can last days, weeks, or months and may lead to a comatose state. A likely cause is identified in about half of all people with NORSE. The most common causes of NORSE include autoimmune disorders, paraneoplastic disorders, and viral encephalitis. Studies indicate that changes in certain genes, including the SCN2A and IL1RN gene(s) may increase the risk to develop NORSE. When the cause cannot be found, cryptogenic NORSE is diagnosed. Most people with cryptogenic NORSE experience a fever prior to seizure development. These cases are classified as a sub-type of NORSE, called Febrile Infection-Related Epilepsy Syndrome (FIRES). A diagnosis of NORSE is suspected in people who develop SE that does not respond to typical treatment and that does not have an obvious cause. A diagnostic work-up may include brain imaging, cerebrospinal fluid studies, and blood tests. Electroencephalography (EEG) is used to monitor seizures throughout the illness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:363558","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018199","ORPHANET_ID__c":"ORPHA:363558","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estatus epiléptico refractario de nueva aparición","Spanish_Description_Source__c":"ORPHA:363558","Spanish_Description__c":"Es una encefalopatía aguda mediada por inflamación con estatus epiléptico. Se caracteriza por un estatus epiléptico refractario agudo, típicamente tónico-clónico, que sigue a los síntomas prodrómicos de confusión, fiebre, fatiga, cefalea, síntomas gastrointestinales o del tracto respiratorio superior, trastornos de conducta o alucinaciones. Durante el episodio agudo se encuentran, con cierta frecuencia, anomalías en la RM cerebral y en el LCR, que incluyen pleocitosis y/o niveles elevados de proteínas. Son consecuencias habituales epilepsia refractaria al tratamiento y trastornos cognitivos y psiquiátricos.","Spanish_Disease_Name__c":"estatus epiléptico refractario de nueva aparición","Spanish_GARD_Synonym__c":"norse","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":"New-onset refractory status epilepticus (NORSE) occurs when a person without a previous history of seizures, experiences status epilepticus (SE) without a clear cause. SE describes a state in which a person has one prolonged seizure, or a cluster of seizures without recovery time in between. The symptoms of NORSE typically begin with a mild fever and general symptoms of illness. People with NORSE may also experience behavioral and cognitive symptoms. SE associated with NORSE can last days, weeks, or months and may lead to a comatose state. A likely cause is identified in about half of all people with NORSE. The most common causes of NORSE include autoimmune disorders, paraneoplastic disorders, and viral encephalitis. Studies indicate that changes in certain genes, including the SCN2A and IL1RN gene(s) may increase the risk to develop NORSE. When the cause cannot be found, cryptogenic NORSE is diagnosed. Most people with cryptogenic NORSE experience a fever prior to seizure development. These cases are classified as a sub-type of NORSE, called Febrile Infection-Related Epilepsy Syndrome (FIRES). A diagnosis of NORSE is suspected in people who develop SE that does not respond to typical treatment and that does not have an obvious cause. A diagnostic work-up may include brain imaging, cerebrospinal fluid studies, and blood tests. Electroencephalography (EEG) is used to monitor seizures throughout the illness.","Curated_Disease_Description_Source__c":"GARD:0012244","GARD_Synonym__c":"norse; norse - new-onset refractory status epilepticus","Name":"New-onset refractory status epilepticus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FamilieSCN2A","Website__c":"https://scn2a.org/"},{"Account_Name__c":"NORSE Institute","Website__c":"https://www.norseinstitute.org/"},{"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/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:363558"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1657271","Source__c":"C4749462","Xref__c":"MEDGEN:1657271"},{"URL__c":"https://www.orpha.net/en/disease/detail/363558","Source__c":"C4749462; MONDO:0018199; ORPHA:363558","Xref__c":"ORPHA:363558"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749462","Source__c":"C4749462","Xref__c":"C4749462"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018199","Source__c":"GARD:0012244","Xref__c":"MONDO:0018199"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770758009","Source__c":"C4749462","Xref__c":"770758009"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal motor seizure in which awareness is retained throughout the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020217","HPO_Synonym__c":"Focal motor aware seizure","HPO_Name__c":"Focal aware motor seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal epileptiform EEG discharges recorded in the temporal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033717","HPO_Name__c":"EEG with temporal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010850","HPO_Name__c":"EEG with spike-wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025373","HPO_Name__c":"Interictal EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","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:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007334","HPO_Synonym__c":"Focal seizure with secondary generalization; Focal to bilateral tonic-clonic seizure; Generalised tonic-clonic seizure with focal onset; Generalised tonic-clonic seizure with partial onset; Generalized tonic-clonic seizure with focal onset; Generalized tonic-clonic seizure with partial onset; Generalized tonic-clonic seizures with focal onset; Partial seizure with secondary generalization; Partial seizures with secondary generalization; Secondarily generalized tonic-clonic seizure; Secondarily generalized tonic-clonic seizures; Secondary generalized tonic clonic seizures; Secondary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with focal onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011468","HPO_Synonym__c":"Cramping of facial muscles; Facial spasms; Facial tics; Jerking of facial muscles; Mimic spasms; Spasms of facial muscles; Twitching of facial muscles","HPO_Name__c":"Facial tics","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal epileptiform EEG discharges recorded in the frontal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033716","HPO_Name__c":"EEG with frontal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031358","HPO_Synonym__c":"Unresponsive wakefulness","HPO_Name__c":"Vegetative state","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of an interleukin (a class of cytokines) is outside the limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011117","HPO_Synonym__c":"Abnormal serum IL level; Abnormal serum interleukin level; Abnormality of IL secretion; Abnormality of interleukin secretion","HPO_Name__c":"Abnormal circulating interleukin concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of metabolism or structure of the brain identified by imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410263","HPO_Synonym__c":"Abnormal brain imaging","HPO_Name__c":"Brain imaging abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002283","HPO_Synonym__c":"Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy","HPO_Name__c":"Global brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032867","HPO_Name__c":"Refractory status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012696","HPO_Name__c":"Abnormal thalamic MRI signal intensity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032794","HPO_Name__c":"Myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007183","HPO_Name__c":"Focal T2 hyperintense basal ganglia lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011154","HPO_Synonym__c":"Focal autonomic seizures","HPO_Name__c":"Focal autonomic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002383","HPO_Synonym__c":"Brain inflammation","HPO_Name__c":"Infectious encephalitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010845","HPO_Synonym__c":"EEG: generalized slow activity","HPO_Name__c":"EEG with generalized slow activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030915","HPO_Synonym__c":"Cerebellar edema; Edema of the cerebellum; Oedema of the cerebellum","HPO_Name__c":"Cerebellar edema","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased white blood cell count in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012229","HPO_Synonym__c":"Cerebrospinal fluid pleocytosis; Increased leukocyte count in CSF","HPO_Name__c":"CSF pleocytosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of protein in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002922","HPO_Synonym__c":"Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated","HPO_Name__c":"Increased CSF protein concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032894","HPO_Synonym__c":"Fever induced seizure","HPO_Name__c":"Seizure precipitated by febrile infection","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010841","HPO_Synonym__c":"Multifocal EEG abnormality","HPO_Name__c":"Multifocal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","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:363558","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012751","HPO_Name__c":"Abnormal basal ganglia MRI signal intensity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002457","HPO_Synonym__c":"Abnormal head movements","HPO_Name__c":"Abnormal head movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","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:363558","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031475","HPO_Synonym__c":"Nonconvulsive status epilepticus","HPO_Name__c":"Status epilepticus without prominent motor symptoms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:363558","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011198","HPO_Name__c":"EEG with generalized epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy"],"Account":["Epilepsy"]},"synonyms":["norse"," norse - new-onset refractory status epilepticus"]}