Epilepsy of infancy with migrating focal seizures
ORPHA:293181DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены9
| 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 |
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | Disease-causing germline mutation(s) in | gene with protein product | 602235 |
| PIGA | phosphatidylinositol glycan anchor biosynthesis class A | Disease-causing germline mutation(s) in | gene with protein product | 311770 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| SLC25A22 | solute carrier family 25 member 22 | Disease-causing germline mutation(s) in | gene with protein product | 609302 |
| TBC1D24 | TBC1 domain family member 24 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613577 |
| PLCB1 | phospholipase C beta 1 | Disease-causing germline mutation(s) in | gene with protein product | 607120 |
| KCNT1 | potassium sodium-activated channel subfamily T member 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 608167 |
| SLC12A5 | solute carrier family 12 member 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606726 |
Фенотипы (HPO)25
Очень частый (80–99%)6
HP:0002376Developmental regression
HP:0002540Inability to walk
HP:0004302Functional motor deficit
HP:0010841Multifocal epileptiform discharges
HP:0012758Neurodevelopmental delay
HP:0100543Cognitive impairment
Частый (30–79%)9
HP:0000252Microcephaly
HP:0001252Hypotonia
HP:0002059Cerebral atrophy
HP:0002069Bilateral tonic-clonic seizure
HP:0002384Focal impaired awareness seizure
HP:0006813Focal hemiclonic seizure
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0010821Focal emotional seizure with laughing
HP:0032794Myoclonic seizure
Периодический (5–29%)9
HP:0000505Visual impairment
HP:0001273Abnormal corpus callosum morphology
HP:0001276Hypertonia
HP:0001508Failure to thrive
HP:0002521Hypsarrhythmia
HP:0002650Scoliosis
HP:0011097Epileptic spasm
HP:0012448Delayed myelination
HP:0031834Aortopulmonary collateral arteries
Очень редкий (1–4%)1
HP:0000826Precocious puberty
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 114 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.11 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)