Familial infantile myoclonic epilepsy
ORPHA:352582DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CPLX1 | complexin 1 | Disease-causing germline mutation(s) in | gene with protein product | 605032 |
| TBC1D24 | TBC1 domain family member 24 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613577 |
| SCN8A | sodium voltage-gated channel alpha subunit 8 | Disease-causing germline mutation(s) in | gene with protein product | 600702 |
Фенотипы (HPO)25
Очень частый (80–99%)2
HP:0001250Seizure
HP:0002123Generalized myoclonic seizure
Частый (30–79%)8
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0006891Thick cerebral cortex
HP:0007359Focal-onset seizure
HP:0011171Simple febrile seizures
HP:0011197EEG with focal spike waves
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0025373Interictal EEG abnormality
Периодический (5–29%)15
HP:0000520Proptosis
HP:0000643Blepharospasm
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0002069Bilateral tonic-clonic seizure
HP:0002312Clumsiness
HP:0002342Intellectual disability, moderate
HP:0006889Intellectual disability, borderline
HP:0025100Abnormal hippocampus morphology
HP:0032388Periventricular nodular heterotopia
HP:0045084Limb myoclonus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)