Epilepsy with auditory features
ORPHA:101046DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RELN | reelin | Disease-causing germline mutation(s) in | gene with protein product | 600514 |
| LGI1 | leucine rich glioma inactivated 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604619 |
| MICAL1 | microtubule associated monooxygenase, calponin and LIM domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 607129 |
Фенотипы (HPO)19
Очень частый (80–99%)3
HP:0007359Focal-onset seizure
HP:0008765Auditory hallucinations
HP:0011185EEG with focal epileptiform discharges
Частый (30–79%)2
HP:0002381Aphasia
HP:0011182Interictal epileptiform activity
Периодический (5–29%)5
HP:0002349Focal aware seizure
HP:0002367Visual hallucinations
HP:0011154Focal autonomic seizure
HP:0012332Abnormal autonomic nervous system physiology
HP:0031951Nocturnal seizures
Очень редкий (1–4%)7
HP:0000708Atypical behavior
HP:0000716Depression
HP:0002069Bilateral tonic-clonic seizure
HP:0002076Migraine
HP:0002197Generalized-onset seizure
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0100710Impulsivity
Исключён (0%)2
HP:0001249Intellectual disability
HP:0410263Brain imaging abnormality
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)