Lennox-Gastaut syndrome
ORPHA:2382DiseaseAutosomal dominant, Multigenic/multifactorial, Not applicableChildhood, Infancy
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CUX2 | cut like homeobox 2 | Disease-causing germline mutation(s) in | gene with protein product | 610648 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| MAPK10 | mitogen-activated protein kinase 10 | Candidate gene tested in | gene with protein product | 602897 |
| CHD2 | chromodomain helicase DNA binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 602119 |
| DNM1 | dynamin 1 | Disease-causing germline mutation(s) in | gene with protein product | 602377 |
| GABRB3 | gamma-aminobutyric acid type A receptor subunit beta3 | Disease-causing germline mutation(s) in | gene with protein product | 137192 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601011 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601011 |
Фенотипы (HPO)25
Очень частый (80–99%)3
HP:0001249Intellectual disability
HP:0001298Encephalopathy
HP:0011195EEG with focal sharp slow waves
Частый (30–79%)16
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000737Irritability
HP:0000752Hyperactivity
HP:0001268Mental deterioration
HP:0001336Myoclonus
HP:0002069Bilateral tonic-clonic seizure
HP:0002353EEG abnormality
HP:0002363Abnormal brainstem morphology
HP:0002527Falls
HP:0007270Atypical absence seizure
HP:0010818Generalized tonic seizure
HP:0010819Atonic seizure
HP:0012075Personality disorder
HP:0012758Neurodevelopmental delay
Периодический (5–29%)6
HP:0000709Psychosis
HP:0000741Apathy
HP:0002123Generalized myoclonic seizure
HP:0002321Vertigo
HP:0002376Developmental regression
HP:0007359Focal-onset seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 15 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)