Rasmussen subacute encephalitis
ORPHA:1929DiseaseNot applicableChildhood
Фенотипы (HPO)48
Очень частый (80–99%)2
HP:0004302Functional motor deficit
HP:0007359Focal-onset seizure
Частый (30–79%)14
HP:0001269Hemiparesis
HP:0002119Ventriculomegaly
HP:0002349Focal aware seizure
HP:0002384Focal impaired awareness seizure
HP:0002960Autoimmunity
HP:0004305Involuntary movements
HP:0011153Focal motor seizure
HP:0011193EEG with focal spikes
HP:0011195EEG with focal sharp slow waves
HP:0012157Subcortical cerebral atrophy
HP:0012847Epilepsia partialis continua
HP:0032665Repeated focal motor seizures
HP:0100308Cerebral cortical hemiatrophy
HP:0100543Cognitive impairment
Периодический (5–29%)28
HP:0000572Visual loss
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000737Irritability
HP:0000752Hyperactivity
HP:0001260Dysarthria
HP:0001328Specific learning disability
HP:0002134Abnormality of the basal ganglia
HP:0002354Memory impairment
HP:0002381Aphasia
HP:0002540Inability to walk
HP:0002921Abnormality of the cerebrospinal fluid
HP:0002922Increased CSF protein concentration
HP:0003493Antinuclear antibody positivity
HP:0007018Attention deficit hyperactivity disorder
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0010818Generalized tonic seizure
HP:0011163Somatosensory auras
HP:0011182Interictal epileptiform activity
HP:0011185EEG with focal epileptiform discharges
HP:0012708Reduced brain N-acetyl aspartate level by MRS
HP:0020151Anti-dsDNA antibody positivity
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0031491Continuous spike and waves during slow sleep
HP:0031535Increased theta frequency activity in EEG
HP:0032005Hemidystonia
HP:0032046Focal cortical dysplasia
HP:0100660Dyskinesia
Очень редкий (1–4%)4
HP:0002283Global brain atrophy
HP:0003460Decreased circulating total IgA
HP:0011097Epileptic spasm
HP:0032661Generalized convulsive status epilepticus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)