Epilepsy with eyelid myoclonia
ORPHA:139431DiseaseUnknownChildhood
Фенотипы (HPO)23
Очень частый (80–99%)2
HP:0002121Generalized non-motor (absence) seizure
HP:0011168Eyelid myoclonias
Частый (30–79%)9
HP:0002123Generalized myoclonic seizure
HP:0010852EEG with photoparoxysmal response
HP:0010858EEG with hyperventilation-induced epileptiform discharges
HP:0011185EEG with focal epileptiform discharges
HP:0011193EEG with focal spikes
HP:0020216Visually-induced seizure
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0045084Limb myoclonus
HP:0100785Insomnia
Периодический (5–29%)10
HP:0000739Anxiety
HP:0001249Intellectual disability
HP:0001328Specific learning disability
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002457Abnormal head movements
HP:0007704Paroxysmal involuntary eye movements
HP:0010819Atonic seizure
HP:0010850EEG with spike-wave complexes
HP:0011182Interictal epileptiform activity
HP:0012001EEG with generalized polyspikes
Очень редкий (1–4%)2
HP:0010818Generalized tonic seizure
HP:0031491Continuous spike and waves during slow sleep
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)