STXBP1-related encephalopathy
ORPHA:599373DiseaseAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)31
Частый (30–79%)4
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0011185EEG with focal epileptiform discharges
Периодический (5–29%)21
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001337Tremor
HP:0001344Absent speech
HP:0002123Generalized myoclonic seizure
HP:0002376Developmental regression
HP:0002384Focal impaired awareness seizure
HP:0002521Hypsarrhythmia
HP:0002540Inability to walk
HP:0006989Dysplastic corpus callosum
HP:0010819Atonic seizure
HP:0010841Multifocal epileptiform discharges
HP:0011097Epileptic spasm
HP:0011153Focal motor seizure
HP:0011203EEG with abnormally slow frequencies
HP:0012469Infantile spasms
HP:0012762Cerebral white matter atrophy
HP:0200134Epileptic encephalopathy
Очень редкий (1–4%)6
HP:0001257Spasticity
HP:0001332Dystonia
HP:0002510Spastic tetraplegia
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0012448Delayed myelination
HP:0100660Dyskinesia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.0885 | Denmark | Value and class |
| Cases/families | — | 282 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | 0.6 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)