Dravet syndrome
ORPHA:33069DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600235 |
| SCN9A | sodium voltage-gated channel alpha subunit 9 | Candidate gene tested in | gene with protein product | 603415 |
| GABRA1 | gamma-aminobutyric acid type A receptor subunit alpha1 | Disease-causing germline mutation(s) in | gene with protein product | 137160 |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | Disease-causing germline mutation(s) in | gene with protein product | 137164 |
| PCDH19 | protocadherin 19 | Disease-causing germline mutation(s) in | gene with protein product | 300460 |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 182390 |
Фенотипы (HPO)46
Очень частый (80–99%)3
HP:0002376Developmental regression
HP:0007240Progressive gait ataxia
HP:0007359Focal-onset seizure
Частый (30–79%)24
HP:0000466Limited neck range of motion
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0001300Parkinsonism
HP:0001327Photomyoclonic seizures
HP:0001336Myoclonus
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002123Generalized myoclonic seizure
HP:0002349Focal aware seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002384Focal impaired awareness seizure
HP:0002396Cogwheel rigidity
HP:0006813Focal hemiclonic seizure
HP:0007207Photosensitive tonic-clonic seizures
HP:0007270Atypical absence seizure
HP:0008770Obsessive-compulsive trait
HP:0010841Multifocal epileptiform discharges
HP:0011169Generalized clonic seizure
HP:0011172Complex febrile seizure
HP:0011182Interictal epileptiform activity
HP:0011468Facial tics
HP:0012847Epilepsia partialis continua
HP:0100543Cognitive impairment
Периодический (5–29%)18
HP:0000736Short attention span
HP:0000980Pallor
HP:0001763Pes planus
HP:0002283Global brain atrophy
HP:0002307Drooling
HP:0002311Incoordination
HP:0002345Action tremor
HP:0003066Limited knee extension
HP:0007010Poor fine motor coordination
HP:0008081Pes valgus
HP:0008947Floppy infant
HP:0011185EEG with focal epileptiform discharges
HP:0011198EEG with generalized epileptiform discharges
HP:0025101Dysgenesis of the hippocampus
HP:0031475Status epilepticus without prominent motor symptoms
HP:0100694Tibial torsion
HP:0100710Impulsivity
HP:0200048Cyanotic episode
Очень редкий (1–4%)1
HP:0010818Generalized tonic seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.3 | Europe | 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)