Hemimegalencephaly
ORPHA:99802Malformation syndromeNot applicableInfancy
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Disease-causing somatic mutation(s) in | gene with protein product | 171834 |
| AKT3 | AKT serine/threonine kinase 3 | Disease-causing somatic mutation(s) in | gene with protein product | 611223 |
| MTOR | mechanistic target of rapamycin kinase | Disease-causing somatic mutation(s) in | gene with protein product | 601231 |
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0001250Seizure
HP:0025373Interictal EEG abnormality
HP:0030890Hyperintensity of cerebral white matter on MRI
Частый (30–79%)13
HP:0000267Cranial asymmetry
HP:0000929Abnormal skull morphology
HP:0001263Global developmental delay
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002392EEG with polyspike wave complexes
HP:0007206Hemimegalencephaly
HP:0010851EEG with burst suppression
HP:0011153Focal motor seizure
HP:0011193EEG with focal spikes
HP:0011195EEG with focal sharp slow waves
HP:0011215Hemihypsarrhythmia
HP:0032046Focal cortical dysplasia
Периодический (5–29%)17
HP:0000256Macrocephaly
HP:0000648Optic atrophy
HP:0001269Hemiparesis
HP:0001302Pachygyria
HP:0001336Myoclonus
HP:0002133Status epilepticus
HP:0002171Gliosis
HP:0002282Gray matter heterotopia
HP:0004302Functional motor deficit
HP:0006824Cranial nerve paralysis
HP:0010819Atonic seizure
HP:0010864Intellectual disability, severe
HP:0011097Epileptic spasm
HP:0011167Focal tonic seizure
HP:0012246Oculomotor nerve palsy
HP:0012377Hemianopia
HP:0012757Abnormal neuron morphology
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)