Rolandic epilepsy-speech dyspraxia syndrome
ORPHA:163721DiseaseAutosomal dominant, X-linked dominantAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)18
Очень частый (80–99%)3
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0011098Speech apraxia
Частый (30–79%)7
HP:0001249Intellectual disability
HP:0002307Drooling
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0007359Focal-onset seizure
HP:0011196EEG with focal sharp waves
HP:0011198EEG with generalized epileptiform discharges
HP:0031491Continuous spike and waves during slow sleep
Периодический (5–29%)8
HP:0000736Short attention span
HP:0001260Dysarthria
HP:0001328Specific learning disability
HP:0001611Hypernasal speech
HP:0002079Hypoplasia of the corpus callosum
HP:0002546Incomprehensible speech
HP:0010300Abnormally low-pitched voice
HP:0031434Abnormal speech prosody
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 277 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)