Folinic acid-responsive seizures
ORPHA:79097DiseaseUnknownInfancy, Neonatal
Фенотипы (HPO)38
Очень частый (80–99%)4
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0012446Decreased CSF 5-methyltetrahydrofolate concentration
Частый (30–79%)12
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001272Cerebellar atrophy
HP:0001298Encephalopathy
HP:0002098Respiratory distress
HP:0003270Abdominal distention
HP:0004302Functional motor deficit
HP:0006808Cerebral hypomyelination
HP:0010841Multifocal epileptiform discharges
HP:0010845EEG with generalized slow activity
HP:0012448Delayed myelination
HP:0040204Elevated CSF neopterin level
Периодический (5–29%)22
HP:0001288Gait disturbance
HP:0000407Sensorineural hearing impairment
HP:0000545Myopia
HP:0000648Optic atrophy
HP:0000737Irritability
HP:0001276Hypertonia
HP:0001285Spastic tetraparesis
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002072Chorea
HP:0002104Apnea
HP:0002123Generalized myoclonic seizure
HP:0002133Status epilepticus
HP:0002136Broad-based gait
HP:0002360Sleep abnormality
HP:0002376Developmental regression
HP:0002465Poor speech
HP:0002521Hypsarrhythmia
HP:0006892Frontotemporal cerebral atrophy
HP:0010819Atonic seizure
HP:0020221Clonic seizure
HP:0100022Abnormality of movement
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)