Childhood absence epilepsy
ORPHA:64280DiseaseAutosomal dominantAdolescent, Childhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GABRA1 | gamma-aminobutyric acid type A receptor subunit alpha1 | Candidate gene tested in | gene with protein product | 137160 |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | Candidate gene tested in | gene with protein product | 137164 |
| GABRB3 | gamma-aminobutyric acid type A receptor subunit beta3 | Major susceptibility factor in | gene with protein product | 137192 |
| CACNA1H | calcium voltage-gated channel subunit alpha1 H | Candidate gene tested in | gene with protein product | 607904 |
| JRK | Jrk helix-turn-helix protein | Candidate gene tested in | gene with protein product | 603210 |
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0010848EEG with spike-wave complexes (2.5-3.5 Hz)
HP:0011147Typical absence seizure
Частый (30–79%)2
HP:0000980Pallor
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)14
HP:0000716Depression
HP:0000739Anxiety
HP:0001249Intellectual disability
HP:0001328Specific learning disability
HP:0002069Bilateral tonic-clonic seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002883Hyperventilation
HP:0007738Uncontrolled eye movements
HP:0010522Dyslexia
HP:0010794Impaired visuospatial constructive cognition
HP:0011150Myoclonic absence
HP:0012433Abnormal social behavior
HP:0030218Punding
HP:0031469Low self esteem
Очень редкий (1–4%)3
HP:0000020Urinary incontinence
HP:0006961Jerky head movements
HP:0045084Limb myoclonus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 5 | United States | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)