Infantile epileptic spasms syndrome
ORPHA:697160DiseaseAutosomal dominant, Autosomal recessive, X-linked dominant
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 182390 |
| CDKL5 | cyclin dependent kinase like 5 | Disease-causing germline mutation(s) in | gene with protein product | 300203 |
| ARX | aristaless related homeobox | Disease-causing germline mutation(s) in | gene with protein product | 300382 |
| PIGA | phosphatidylinositol glycan anchor biosynthesis class A | Disease-causing germline mutation(s) in | gene with protein product | 311770 |
| SPTAN1 | spectrin alpha, non-erythrocytic 1 | Disease-causing germline mutation(s) in | gene with protein product | 182810 |
| PLCB1 | phospholipase C beta 1 | Disease-causing germline mutation(s) in | gene with protein product | 607120 |
| GRIN2B | glutamate ionotropic receptor NMDA type subunit 2B | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 138252 |
| WDR45 | WD repeat domain 45 | Disease-causing germline mutation(s) in | gene with protein product | 300526 |
| NTRK2 | neurotrophic receptor tyrosine kinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 600456 |
| SIK1 | salt inducible kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 605705 |
| GUF1 | GTP binding elongation factor GUF1 | Disease-causing germline mutation(s) in | gene with protein product | 617064 |
| CNPY3 | canopy FGF signaling regulator 3 | Disease-causing germline mutation(s) in | gene with protein product | 610774 |
| PHACTR1 | phosphatase and actin regulator 1 | Disease-causing germline mutation(s) in | gene with protein product | 608723 |
Фенотипы (HPO)6
Очень частый (80–99%)4
HP:0001336Myoclonus
HP:0002376Developmental regression
HP:0002521Hypsarrhythmia
HP:0012469Infantile spasms
Частый (30–79%)2
HP:0000707Abnormality of the nervous system
HP:0011121Abnormal skin morphology
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)