Myoclonic epilepsy of infancy
ORPHA:86909DiseaseAutosomal recessiveInfancy
Фенотипы (HPO)21
Очень частый (80–99%)5
HP:0001256Intellectual disability, mild
HP:0001326EEG with irregular generalized spike and wave complexes
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0007018Attention deficit hyperactivity disorder
Частый (30–79%)8
HP:0000718Aggressive behavior
HP:0000737Irritability
HP:0001263Global developmental delay
HP:0001268Mental deterioration
HP:0001336Myoclonus
HP:0002275Poor motor coordination
HP:0002376Developmental regression
HP:0007057Poor hand-eye coordination
Периодический (5–29%)7
HP:0001112Leber optic atrophy
HP:0001260Dysarthria
HP:0002121Generalized non-motor (absence) seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002463Language impairment
HP:0007207Photosensitive tonic-clonic seizures
HP:0010862Delayed fine motor development
Очень редкий (1–4%)1
HP:0002301Hemiplegia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 106 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)