Developmental and epileptic encephalopathy with spike-wave activation in sleep
ORPHA:725DiseaseAutosomal dominant, Not applicableChildhood
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0001250Seizure
HP:0011182Interictal epileptiform activity
HP:0031491Continuous spike and waves during slow sleep
Частый (30–79%)12
HP:0001249Intellectual disability
HP:0002069Bilateral tonic-clonic seizure
HP:0002349Focal aware seizure
HP:0002376Developmental regression
HP:0002384Focal impaired awareness seizure
HP:0006813Focal hemiclonic seizure
HP:0007270Atypical absence seizure
HP:0007359Focal-onset seizure
HP:0011153Focal motor seizure
HP:0012010EEG with frontal focal spike waves
HP:0012557EEG with centrotemporal focal spike waves
HP:0100543Cognitive impairment
Периодический (5–29%)15
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0001332Dystonia
HP:0001345Psychotic mentation
HP:0002266Focal clonic seizure
HP:0002312Clumsiness
HP:0002333Motor deterioration
HP:0002381Aphasia
HP:0002487Hyperkinetic movements
HP:0009088Speech articulation difficulties
HP:0010819Atonic seizure
HP:0011098Speech apraxia
HP:0011147Typical absence seizure
HP:0011150Myoclonic absence
HP:0012001EEG with generalized polyspikes
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)