PCDH19 clustering epilepsy
ORPHA:714652DiseaseX-linked dominant
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
Частый (30–79%)12
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0002069Bilateral tonic-clonic seizure
HP:0002133Status epilepticus
HP:0010818Generalized tonic seizure
HP:0011169Generalized clonic seizure
HP:0012433Abnormal social behavior
Периодический (5–29%)14
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
HP:0002187Intellectual disability, profound
HP:0002342Intellectual disability, moderate
HP:0007270Atypical absence seizure
HP:0007359Focal-onset seizure
HP:0010819Atonic seizure
HP:0010864Intellectual disability, severe
HP:0011172Complex febrile seizure
HP:0100710Impulsivity
Очень редкий (1–4%)2
HP:0000709Psychosis
HP:0100738Abnormal eating behavior
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)