Familial focal epilepsy with variable foci
ORPHA:98820DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614191 |
| NPRL2 | NPR2 like, GATOR1 complex subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607072 |
| NPRL3 | NPR3 like, GATOR1 complex subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600928 |
| SCN3A | sodium voltage-gated channel alpha subunit 3 | Disease-causing germline mutation(s) in | gene with protein product | 182391 |
Фенотипы (HPO)26
Очень частый (80–99%)2
HP:0007359Focal-onset seizure
HP:0011185EEG with focal epileptiform discharges
Частый (30–79%)3
HP:0002069Bilateral tonic-clonic seizure
HP:0025373Interictal EEG abnormality
HP:0031951Nocturnal seizures
Периодический (5–29%)17
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000980Pallor
HP:0001249Intellectual disability
HP:0002349Focal aware seizure
HP:0002367Visual hallucinations
HP:0002384Focal impaired awareness seizure
HP:0002427Motor aphasia
HP:0003401Paresthesia
HP:0008765Auditory hallucinations
HP:0010841Multifocal epileptiform discharges
HP:0012005Deja vu
HP:0012469Infantile spasms
HP:0012531Pain
HP:0031284Flushing
HP:0032046Focal cortical dysplasia
HP:0100543Cognitive impairment
Очень редкий (1–4%)4
HP:0002126Polymicrogyria
HP:0002521Hypsarrhythmia
HP:0007206Hemimegalencephaly
HP:0011171Simple febrile seizures
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 76 | 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)