Self-limited infantile epilepsy
ORPHA:306DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN8A | sodium voltage-gated channel alpha subunit 8 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600702 |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 182390 |
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | Disease-causing germline mutation(s) in | gene with protein product | 602235 |
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | Disease-causing germline mutation(s) in | gene with protein product | 602232 |
| PRRT2 | proline rich transmembrane protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 614386 |
Фенотипы (HPO)34
Очень частый (80–99%)2
HP:0002372Normal interictal EEG
HP:0032807Neonatal seizure
Частый (30–79%)17
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001332Dystonia
HP:0002072Chorea
HP:0002104Apnea
HP:0002266Focal clonic seizure
HP:0002305Athetosis
HP:0002384Focal impaired awareness seizure
HP:0004305Involuntary movements
HP:0007166Paroxysmal dyskinesia
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0007359Focal-onset seizure
HP:0010818Generalized tonic seizure
HP:0011153Focal motor seizure
HP:0011167Focal tonic seizure
HP:0011169Generalized clonic seizure
HP:0032755Focal impaired awareness autonomic seizure
Периодический (5–29%)10
HP:0000961Cyanosis
HP:0001276Hypertonia
HP:0002069Bilateral tonic-clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0011172Complex febrile seizure
HP:0012002Experiential epileptic aura
HP:0032678Eyelid myoclonia seizure
HP:0032823Neonatal electro-clinical seizure with behavior arrest
HP:0032906Focal head nodding automatism seizure
HP:0045084Limb myoclonus
Очень редкий (1–4%)3
HP:0002133Status epilepticus
HP:0011171Simple febrile seizures
HP:0011182Interictal epileptiform activity
Исключён (0%)2
HP:0002361Psychomotor deterioration
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)