Pyridoxine-dependent-developmental and epileptic encephalopathy
ORPHA:3006DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)35
Облигатный (100%)1
HP:0001250Seizure
Частый (30–79%)14
HP:0000737Irritability
HP:0001557Prenatal movement abnormality
HP:0002079Hypoplasia of the corpus callosum
HP:0002133Status epilepticus
HP:0002643Neonatal respiratory distress
HP:0007359Focal-onset seizure
HP:0010845EEG with generalized slow activity
HP:0010851EEG with burst suppression
HP:0011152Early onset absence seizures
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
HP:0020217Focal aware motor seizure
HP:0025116Fetal distress
HP:0030917Low APGAR score
Периодический (5–29%)18
HP:0000273Facial grimacing
HP:0000496Abnormality of eye movement
HP:0000711Restlessness
HP:0001249Intellectual disability
HP:0002119Ventriculomegaly
HP:0002188Delayed CNS myelination
HP:0002280Enlarged cisterna magna
HP:0002521Hypsarrhythmia
HP:0010819Atonic seizure
HP:0010841Multifocal epileptiform discharges
HP:0011097Epileptic spasm
HP:0011166Focal myoclonic seizure
HP:0011198EEG with generalized epileptiform discharges
HP:0011199EEG with generalized sharp slow waves
HP:0012420Meconium stained amniotic fluid
HP:0012444Brain atrophy
HP:0012704Widened subarachnoid space
HP:0012768Neonatal asphyxia
Очень редкий (1–4%)2
HP:0003128Lactic acidosis
HP:0001943Hypoglycemia
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5 | Germany | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)